UniProtKB - P02545 (LMNA_HUMAN)
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- BLAST>sp|P02545|LMNA_HUMAN Prelamin-A/C OS=Homo sapiens OX=9606 GN=LMNA PE=1 SV=1 METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLR LRITESEEVVSREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARN TKKEGDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAK KQLQDEMLRRVDAENRLQTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESR LADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRID SLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQ ELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRK LESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLT YRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAM RKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASA SGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYLLGNSSPRTQSPQN CSIM
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Protein
Prelamin-A/C
Gene
LMNA
Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:
Annotation score:5 out of 5
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>Select a section on the left to see content.
<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni
Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation (PubMed:10080180, PubMed:22431096, PubMed:10814726, PubMed:11799477, PubMed:18551513). Required for osteoblastogenesis and bone formation (PubMed:12075506, PubMed:15317753, PubMed:18611980). Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone (PubMed:10587585). Required for cardiac homeostasis (PubMed:10580070, PubMed:12927431, PubMed:18611980, PubMed:23666920).12 Publications
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.37"LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset."
Kane M.S., Lindsay M.E., Judge D.P., Barrowman J., Ap Rhys C., Simonson L., Dietz H.C., Michaelis S.
Am. J. Med. Genet. A 161:1599-1611(2013) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN HGPS, VARIANT HGPS GLY-300, CHARACTERIZATION OF VARIANT HGPS GLY-300. - Ref.51"Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy."
Bonne G., Di Barletta M.R., Varnous S., Becane H.-M., Hammouda E.-H., Merlini L., Muntoni F., Greenberg C.R., Gary F., Urtizberea J.-A., Duboc D., Fardeau M., Toniolo D., Schwartz K.
Nat. Genet. 21:285-288(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS EDMD2 TRP-453; PRO-527 AND PRO-530, FUNCTION. - Ref.52"Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease."
Fatkin D., MacRae C., Sasaki T., Wolff M.R., Porcu M., Frenneaux M., Atherton J., Vidaillet H.J. Jr., Spudich S., De Girolami U., Seidman J.G., Seidman C.E.
N. Engl. J. Med. 341:1715-1724(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMD1A GLY-60; ARG-85; LYS-195 AND GLY-203, FUNCTION. - Ref.56"Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy."
Cao H., Hegele R.A.
Hum. Mol. Genet. 9:109-112(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT FPLD2 GLN-482. - Ref.57"Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)."
Muchir A., Bonne G., van der Kooi A.J., van Meegen M., Baas F., Bolhuis P.A., de Visser M., Schwartz K.
Hum. Mol. Genet. 9:1453-1459(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS LGMD1B LYS-208 DEL AND HIS-377, FUNCTION. - Ref.65"Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse."
De Sandre-Giovannoli A., Chaouch M., Kozlov S., Vallat J.-M., Tazir M., Kassouri N., Szepetowski P., Hammadouche T., Vandenberghe A., Stewart C.L., Grid D., Levy N.
Am. J. Hum. Genet. 70:726-736(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMT2B1 CYS-298, FUNCTION. - Ref.66"Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C."
Novelli G., Muchir A., Sangiuolo F., Helbling-Leclerc A., D'Apice M.R., Massart C., Capon F., Sbraccia P., Federici M., Lauro R., Tudisco C., Pallotta R., Scarano G., Dallapiccola B., Merlini L., Bonne G.
Am. J. Hum. Genet. 71:426-431(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MADA HIS-527, FUNCTION. - Ref.79"LMNA mutations in atypical Werner's syndrome."
Chen L., Lee L., Kudlow B.A., Dos Santos H.G., Sletvold O., Shafeghati Y., Botha E.G., Garg A., Hanson N.B., Martin G.M., Mian I.S., Kennedy B.K., Oshima J.
Lancet 362:440-445(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMDHH PRO-57, VARIANT HGPS ARG-140, FUNCTION. - Ref.83"Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy."
Navarro C.L., De Sandre-Giovannoli A., Bernard R., Boccaccio I., Boyer A., Genevieve D., Hadj-Rabia S., Gaudy-Marqueste C., Smitt H.S., Vabres P., Faivre L., Verloes A., Van Essen T., Flori E., Hennekam R., Beemer F.A., Laurent N., Le Merrer M., Cau P., Levy N.
Hum. Mol. Genet. 13:2493-2503(2004) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN LTSCS, FUNCTION. - Ref.97"De novo LMNA mutations cause a new form of congenital muscular dystrophy."
Quijano-Roy S., Mbieleu B., Bonnemann C.G., Jeannet P.Y., Colomer J., Clarke N.F., Cuisset J.M., Roper H., De Meirleir L., D'Amico A., Ben Yaou R., Nascimento A., Barois A., Demay L., Bertini E., Ferreiro A., Sewry C.A., Romero N.B. , Ryan M., Muntoni F., Guicheney P., Richard P., Bonne G., Estournet B.
Ann. Neurol. 64:177-186(2008) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MDCL SER-39; PRO-50; TRP-249; PRO-302; LYS-358; SER-380; PRO-453; PRO-455 AND ASP-456. - Ref.98"Heart-hand syndrome of Slovenian type: a new kind of laminopathy."
Renou L., Stora S., Yaou R.B., Volk M., Sinkovec M., Demay L., Richard P., Peterlin B., Bonne G.
J. Med. Genet. 45:666-671(2008) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN HHS-SLOVENIAN, FUNCTION. - Ref.106"Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing."
Jimenez-Escrig A., Gobernado I., Garcia-Villanueva M., Sanchez-Herranz A.
Muscle Nerve 45:605-610(2012) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT EDMD3 GLN-225, FUNCTION.
Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA damage in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence.
Miscellaneous
There are three types of lamins in human cells: A, B, and C.
The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively.
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei | 266 | Heptad change of phase | 1 | |
| <p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei | 325 | StutterBy similarity | 1 | |
| <p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei | 330 | Heptad change of phase | 1 |
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- identical protein binding Source: IntAct <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- structural molecule activity Source: UniProtKB <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi
- cellular protein localization Source: CAFA <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- cellular response to hypoxia Source: UniProtKB <p>Inferred from Expression Pattern</p> <p>Covers cases where the annotation is inferred from the timing or location of expression of a gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iep">GO evidence code guide</a></p> Inferred from expression patterni
- establishment or maintenance of microtubule cytoskeleton polarity Source: BHF-UCL
- IRE1-mediated unfolded protein response Source: Reactome
- mitotic nuclear envelope reassembly Source: Reactome
- muscle organ development Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- negative regulation of cardiac muscle hypertrophy in response to stress Source: UniProtKB
- negative regulation of cell proliferation Source: CAFA <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- negative regulation of extrinsic apoptotic signaling pathway Source: Ensembl
- negative regulation of mesenchymal cell proliferation Source: Ensembl
- negative regulation of release of cytochrome c from mitochondria Source: Ensembl
- nuclear envelope organization Source: CAFA <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- positive regulation of cell aging Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- positive regulation of gene expression Source: Ensembl
- protein import into nucleus Source: Ensembl
- protein localization to nucleus Source: UniProtKB
- regulation of cell migration Source: BHF-UCL
- regulation of protein localization to nucleus Source: Ensembl
- regulation of telomere maintenance Source: BHF-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- ventricular cardiac muscle cell development Source: Ensembl
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-1221632 Meiotic synapsis R-HSA-2993913 Clearance of Nuclear Envelope Membranes from Chromatin R-HSA-2995383 Initiation of Nuclear Envelope Reformation R-HSA-352238 Breakdown of the nuclear lamina R-HSA-381038 XBP1(S) activates chaperone genes R-HSA-4419969 Depolymerisation of the Nuclear Lamina R-HSA-6802952 Signaling by BRAF and RAF fusions R-HSA-8862803 Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models |
SIGNOR Signaling Network Open Resource More...SIGNORi | P02545 |
<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: Prelamin-A/CCleaved into the following chain: Alternative name(s): 70 kDa lamin Renal carcinoma antigen NY-REN-32 |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi | Name:LMNA Synonyms:LMN1 |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi |
|
Organism-specific databases
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000160789.19 |
Human Gene Nomenclature Database More...HGNCi | HGNC:6636 LMNA |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 150330 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_P02545 |
<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
Nucleus
- Nucleus 1 Publication
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.87"Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations."
Muchir A., Medioni J., Laluc M., Massart C., Arimura T., van der Kooi A.J., Desguerre I., Mayer M., Ferrer X., Briault S., Hirano M., Worman H.J., Mallet A., Wehnert M., Schwartz K., Bonne G.
Muscle Nerve 30:444-450(2004) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS EDMD2 LYS-32 DEL; SER-63; GLN-249; LYS-358; CYS-401; TRP-453 AND PRO-527, CHARACTERIZATION OF VARIANTS LGMD1B LYS-208 DEL AND HIS-377, CHARACTERIZATION OF VARIANT FPLD2 LEU-482, CHARACTERIZATION OF VARIANT CMD1A CYS-541.
- Nucleus envelope
- Nucleus lamina
- nucleoplasm
Note: Farnesylation of prelamin-A/C facilitates nuclear envelope targeting and subsequent cleaveage by ZMPSTE24/FACE1 to remove the farnesyl group produces mature lamin-A/C, which can then be inserted into the nuclear lamina. EMD is required for proper localization of non-farnesylated prelamin-A/C.- Nucleus 1 Publication
Isoform C :
Nucleus
- Nucleus speckle 1 Publication
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.3"In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients."
Sylvius N., Bilinska Z.T., Veinot J.P., Fidzianska A., Bolongo P.M., Poon S., McKeown P., Davies R.A., Chan K.-L., Tang A.S.L., Dyack S., Grzybowski J., Ruzyllo W., McBride H., Tesson F.
J. Med. Genet. 42:639-647(2005) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), SUBCELLULAR LOCATION (ISOFORM C), VARIANTS CMD1A TRP-190; GLY-192 AND SER-541, CHARACTERIZATION OF VARIANTS CMD1A GLY-192 AND SER-541.
- Nucleus speckle 1 Publication
Cytoskeleton
- intermediate filament Source: UniProtKB <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- lamin filament Source: UniProtKB <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
Cytosol
- cytosol Source: Reactome
Nucleus
- lamin filament Source: UniProtKB <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- nuclear envelope Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- nuclear lamina Source: UniProtKB <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- nuclear membrane Source: UniProtKBInferred from high throughput direct assayi
- nuclear speck Source: UniProtKB-SubCell
- nucleoplasm Source: CAFA <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- nucleus Source: ARUK-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
Other locations
- perinuclear region of cytoplasm Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti
Intermediate filament, Nucleus<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)15 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.31"Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes."
Haque F., Mazzeo D., Patel J.T., Smallwood D.T., Ellis J.A., Shanahan C.M., Shackleton S.
J. Biol. Chem. 285:3487-3498(2010) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH SUN1, CHARACTERIZATION OF VARIANTS EDMD2 PRO-527 AND PRO-530, CHARACTERIZATION OF VARIANT HGPS SER-608. - Ref.51"Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy."
Bonne G., Di Barletta M.R., Varnous S., Becane H.-M., Hammouda E.-H., Merlini L., Muntoni F., Greenberg C.R., Gary F., Urtizberea J.-A., Duboc D., Fardeau M., Toniolo D., Schwartz K.
Nat. Genet. 21:285-288(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS EDMD2 TRP-453; PRO-527 AND PRO-530, FUNCTION. - Ref.54"Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy."
Raffaele di Barletta M., Ricci E., Galluzzi G., Tonali P., Mora M., Morandi L., Romorini A., Voit T., Orstavik K.H., Merlini L., Trevisan C., Biancalana V., Housmanowa-Petrusewicz I., Bione S., Ricotti R., Schwartz K., Bonne G., Toniolo D.
Am. J. Hum. Genet. 66:1407-1412(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS EDMD2 TYR-222; GLN-249; GLN-336; TRP-453; THR-469; PRO-527 AND LYS-528. - Ref.55"Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene."
Bonne G., Mercuri E., Muchir A., Urtizberea A., Becane H.M., Recan D., Merlini L., Wehnert M., Boor R., Reuner U., Vorgerd M., Wicklein E.M., Eymard B., Duboc D., Penisson-Besnier I., Cuisset J.M., Ferrer X., Desguerre I. , Lacombe D., Bushby K., Pollitt C., Toniolo D., Fardeau M., Schwartz K., Muntoni F.
Ann. Neurol. 48:170-180(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS EDMD2 CYS-45; PRO-50; SER-63; GLU-112 DEL; PRO-222; GLU-232; GLN-249; LYS-261 DEL; PRO-294; LYS-358; LYS-371; LYS-386; TRP-453; LYS-456; SER-520; PRO-527 AND LYS-528. - Ref.59"Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene."
Felice K.J., Schwartz R.C., Brown C.A., Leicher C.R., Grunnet M.L.
Neurology 55:275-280(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS EDMD2 PRO-150 AND LYS-261 DEL. - Ref.60"Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy."
Brown C.A., Lanning R.W., McKinney K.Q., Salvino A.R., Cherniske E., Crowe C.A., Darras B.T., Gominak S., Greenberg C.R., Grosmann C., Heydemann P., Mendell J.R., Pober B.R., Sasaki T., Shapiro F., Simpson D.A., Suchowersky O., Spence J.E.
Am. J. Med. Genet. 102:359-367(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS EDMD2 PRO-25; THR-43; SER-50; PRO-133; 196-ARG--THR-199 DELINS SER; GLN-249; LYS-261 DEL; LYS-358; TRP-453; ILE-456; PRO-527 AND HIS-624. - Ref.62"Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy."
Oestlund C., Bonne G., Schwartz K., Worman H.J.
J. Cell Sci. 114:4435-4445(2001) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CMD1A GLY-60; ARG-85; LYS-195 AND GLY-203, CHARACTERIZATION OF VARIANTS EDMD2 LYS-358; LYS-371; LYS-386; TRP-453; SER-520; PRO-527; LYS-528 AND PRO-530, CHARACTERIZATION OF VARIANTS FPLD2 GLN-482; TRP-482 AND ASN-486. - Ref.69"Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B."
Ki C.-S., Hong J.S., Jeong G.-Y., Ahn K.J., Choi K.-M., Kim D.-K., Kim J.-W.
J. Hum. Genet. 47:225-228(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT EDMD2 GLN-249, VARIANT LGMD1B LEU-377. - Ref.71"Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy."
Vytopil M., Ricci E., Dello Russo A., Hanisch F., Neudecker S., Zierz S., Ricotti R., Demay L., Richard P., Wehnert M., Bonne G., Merlini L., Toniolo D.
Neuromuscul. Disord. 12:958-963(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS EDMD2 LYS-32 DEL; ASN-63; GLN-336; GLN-343 AND CYS-401. - Ref.78"Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes."
Vytopil M., Benedetti S., Ricci E., Galluzzi G., Dello Russo A., Merlini L., Boriani G., Gallina M., Morandi L., Politano L., Moggio M., Chiveri L., Hausmanova-Petrusewicz I., Ricotti R., Vohanka S., Toman J., Toniolo D.
J. Med. Genet. 40:E132-E132(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS EDMD2 GLY-25; LYS-32 DEL; VAL-35; GLY-65; GLU-112 DEL; PRO-248; GLN-249; CYS-267; VAL-446; TRP-453; ARG-528 AND HIS-541, VARIANT CMD1A CYS-435. - Ref.80"Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study."
Boriani G., Gallina M., Merlini L., Bonne G., Toniolo D., Amati S., Biffi M., Martignani C., Frabetti L., Bonvicini M., Rapezzi C., Branzi A.
Stroke 34:901-908(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS EDMD2 ASN-63; PRO-140; GLN-249; LEU-377; LYS-386 AND PRO-527. - Ref.86"A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia."
Goizet C., Yaou R.B., Demay L., Richard P., Bouillot S., Rouanet M., Hermosilla E., Le Masson G., Lagueny A., Bonne G., Ferrer X.
J. Med. Genet. 41:E29-E29(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMT2 ASP-33, VARIANT EDMD2 GLY-33. - Ref.87"Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations."
Muchir A., Medioni J., Laluc M., Massart C., Arimura T., van der Kooi A.J., Desguerre I., Mayer M., Ferrer X., Briault S., Hirano M., Worman H.J., Mallet A., Wehnert M., Schwartz K., Bonne G.
Muscle Nerve 30:444-450(2004) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS EDMD2 LYS-32 DEL; SER-63; GLN-249; LYS-358; CYS-401; TRP-453 AND PRO-527, CHARACTERIZATION OF VARIANTS LGMD1B LYS-208 DEL AND HIS-377, CHARACTERIZATION OF VARIANT FPLD2 LEU-482, CHARACTERIZATION OF VARIANT CMD1A CYS-541. - Ref.91"Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy."
Cenni V., Sabatelli P., Mattioli E., Marmiroli S., Capanni C., Ognibene A., Squarzoni S., Maraldi N.M., Bonne G., Columbaro M., Merlini L., Lattanzi G.
J. Med. Genet. 42:214-220(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT LGMD1B HIS-377, VARIANTS EDMD2 ASN-63; PRO-140; GLN-190; GLN-249 AND PRO-527. - Ref.104"Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations."
Scharner J., Brown C.A., Bower M., Iannaccone S.T., Khatri I.A., Escolar D., Gordon E., Felice K., Crowe C.A., Grosmann C., Meriggioli M.N., Asamoah A., Gordon O., Gnocchi V.F., Ellis J.A., Mendell J.R., Zammit P.S.
Hum. Mutat. 32:152-167(2011) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS EDMD2 SER-39; CYS-45; PRO-150; PRO-189; ARG-190 INS; LEU-206; TRP-249; GLN-249; PRO-268; PRO-271; PRO-294; PRO-295; PRO-303; GLN-355 DEL; LYS-358; LYS-361; LYS-386; ASP-449; TRP-453; PRO-454; TYR-461; ARG-467; PRO-527; LYS-528; ARG-528; SER-541; PRO-541; SER-602 AND CYS-644, CHARACTERIZATION OF VARIANTS EDMD2 PRO-25; TRP-249; ILE-456 AND PRO-541.
Ref.31
"Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes."
Haque F., Mazzeo D., Patel J.T., Smallwood D.T., Ellis J.A., Shanahan C.M., Shackleton S.
J. Biol. Chem. 285:3487-3498(2010) [PubMed] [Europe PMC] [Abstract]
Haque F., Mazzeo D., Patel J.T., Smallwood D.T., Ellis J.A., Shanahan C.M., Shackleton S.
J. Biol. Chem. 285:3487-3498(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH SUN1, CHARACTERIZATION OF VARIANTS EDMD2 PRO-527 AND PRO-530, CHARACTERIZATION OF VARIANT HGPS SER-608.
Ref.51
"Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy."
Bonne G., Di Barletta M.R., Varnous S., Becane H.-M., Hammouda E.-H., Merlini L., Muntoni F., Greenberg C.R., Gary F., Urtizberea J.-A., Duboc D., Fardeau M., Toniolo D., Schwartz K.
Nat. Genet. 21:285-288(1999) [PubMed] [Europe PMC] [Abstract]
Bonne G., Di Barletta M.R., Varnous S., Becane H.-M., Hammouda E.-H., Merlini L., Muntoni F., Greenberg C.R., Gary F., Urtizberea J.-A., Duboc D., Fardeau M., Toniolo D., Schwartz K.
Nat. Genet. 21:285-288(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EDMD2 TRP-453; PRO-527 AND PRO-530, FUNCTION.
Ref.54
"Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy."
Raffaele di Barletta M., Ricci E., Galluzzi G., Tonali P., Mora M., Morandi L., Romorini A., Voit T., Orstavik K.H., Merlini L., Trevisan C., Biancalana V., Housmanowa-Petrusewicz I., Bione S., Ricotti R., Schwartz K., Bonne G., Toniolo D.
Am. J. Hum. Genet. 66:1407-1412(2000) [PubMed] [Europe PMC] [Abstract]
Raffaele di Barletta M., Ricci E., Galluzzi G., Tonali P., Mora M., Morandi L., Romorini A., Voit T., Orstavik K.H., Merlini L., Trevisan C., Biancalana V., Housmanowa-Petrusewicz I., Bione S., Ricotti R., Schwartz K., Bonne G., Toniolo D.
Am. J. Hum. Genet. 66:1407-1412(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EDMD2 TYR-222; GLN-249; GLN-336; TRP-453; THR-469; PRO-527 AND LYS-528.
Ref.55
"Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene."
Bonne G., Mercuri E., Muchir A., Urtizberea A., Becane H.M., Recan D., Merlini L., Wehnert M., Boor R., Reuner U., Vorgerd M., Wicklein E.M., Eymard B., Duboc D., Penisson-Besnier I., Cuisset J.M., Ferrer X., Desguerre I. , Lacombe D., Bushby K., Pollitt C., Toniolo D., Fardeau M., Schwartz K., Muntoni F.
Ann. Neurol. 48:170-180(2000) [PubMed] [Europe PMC] [Abstract]
Bonne G., Mercuri E., Muchir A., Urtizberea A., Becane H.M., Recan D., Merlini L., Wehnert M., Boor R., Reuner U., Vorgerd M., Wicklein E.M., Eymard B., Duboc D., Penisson-Besnier I., Cuisset J.M., Ferrer X., Desguerre I. , Lacombe D., Bushby K., Pollitt C., Toniolo D., Fardeau M., Schwartz K., Muntoni F.
Ann. Neurol. 48:170-180(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EDMD2 CYS-45; PRO-50; SER-63; GLU-112 DEL; PRO-222; GLU-232; GLN-249; LYS-261 DEL; PRO-294; LYS-358; LYS-371; LYS-386; TRP-453; LYS-456; SER-520; PRO-527 AND LYS-528.
Ref.59
"Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene."
Felice K.J., Schwartz R.C., Brown C.A., Leicher C.R., Grunnet M.L.
Neurology 55:275-280(2000) [PubMed] [Europe PMC] [Abstract]
Felice K.J., Schwartz R.C., Brown C.A., Leicher C.R., Grunnet M.L.
Neurology 55:275-280(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EDMD2 PRO-150 AND LYS-261 DEL.
Ref.60
"Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy."
Brown C.A., Lanning R.W., McKinney K.Q., Salvino A.R., Cherniske E., Crowe C.A., Darras B.T., Gominak S., Greenberg C.R., Grosmann C., Heydemann P., Mendell J.R., Pober B.R., Sasaki T., Shapiro F., Simpson D.A., Suchowersky O., Spence J.E.
Am. J. Med. Genet. 102:359-367(2001) [PubMed] [Europe PMC] [Abstract]
Brown C.A., Lanning R.W., McKinney K.Q., Salvino A.R., Cherniske E., Crowe C.A., Darras B.T., Gominak S., Greenberg C.R., Grosmann C., Heydemann P., Mendell J.R., Pober B.R., Sasaki T., Shapiro F., Simpson D.A., Suchowersky O., Spence J.E.
Am. J. Med. Genet. 102:359-367(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EDMD2 PRO-25; THR-43; SER-50; PRO-133; 196-ARG--THR-199 DELINS SER; GLN-249; LYS-261 DEL; LYS-358; TRP-453; ILE-456; PRO-527 AND HIS-624.
Ref.62
"Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy."
Oestlund C., Bonne G., Schwartz K., Worman H.J.
J. Cell Sci. 114:4435-4445(2001) [PubMed] [Europe PMC] [Abstract]
Oestlund C., Bonne G., Schwartz K., Worman H.J.
J. Cell Sci. 114:4435-4445(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS CMD1A GLY-60; ARG-85; LYS-195 AND GLY-203, CHARACTERIZATION OF VARIANTS EDMD2 LYS-358; LYS-371; LYS-386; TRP-453; SER-520; PRO-527; LYS-528 AND PRO-530, CHARACTERIZATION OF VARIANTS FPLD2 GLN-482; TRP-482 AND ASN-486.
Ref.69
"Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B."
Ki C.-S., Hong J.S., Jeong G.-Y., Ahn K.J., Choi K.-M., Kim D.-K., Kim J.-W.
J. Hum. Genet. 47:225-228(2002) [PubMed] [Europe PMC] [Abstract]
Ki C.-S., Hong J.S., Jeong G.-Y., Ahn K.J., Choi K.-M., Kim D.-K., Kim J.-W.
J. Hum. Genet. 47:225-228(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EDMD2 GLN-249, VARIANT LGMD1B LEU-377.
Ref.71
"Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy."
Vytopil M., Ricci E., Dello Russo A., Hanisch F., Neudecker S., Zierz S., Ricotti R., Demay L., Richard P., Wehnert M., Bonne G., Merlini L., Toniolo D.
Neuromuscul. Disord. 12:958-963(2002) [PubMed] [Europe PMC] [Abstract]
Vytopil M., Ricci E., Dello Russo A., Hanisch F., Neudecker S., Zierz S., Ricotti R., Demay L., Richard P., Wehnert M., Bonne G., Merlini L., Toniolo D.
Neuromuscul. Disord. 12:958-963(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EDMD2 LYS-32 DEL; ASN-63; GLN-336; GLN-343 AND CYS-401.
Ref.78
"Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes."
Vytopil M., Benedetti S., Ricci E., Galluzzi G., Dello Russo A., Merlini L., Boriani G., Gallina M., Morandi L., Politano L., Moggio M., Chiveri L., Hausmanova-Petrusewicz I., Ricotti R., Vohanka S., Toman J., Toniolo D.
J. Med. Genet. 40:E132-E132(2003) [PubMed] [Europe PMC] [Abstract]
Vytopil M., Benedetti S., Ricci E., Galluzzi G., Dello Russo A., Merlini L., Boriani G., Gallina M., Morandi L., Politano L., Moggio M., Chiveri L., Hausmanova-Petrusewicz I., Ricotti R., Vohanka S., Toman J., Toniolo D.
J. Med. Genet. 40:E132-E132(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EDMD2 GLY-25; LYS-32 DEL; VAL-35; GLY-65; GLU-112 DEL; PRO-248; GLN-249; CYS-267; VAL-446; TRP-453; ARG-528 AND HIS-541, VARIANT CMD1A CYS-435.
Ref.80
"Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study."
Boriani G., Gallina M., Merlini L., Bonne G., Toniolo D., Amati S., Biffi M., Martignani C., Frabetti L., Bonvicini M., Rapezzi C., Branzi A.
Stroke 34:901-908(2003) [PubMed] [Europe PMC] [Abstract]
Boriani G., Gallina M., Merlini L., Bonne G., Toniolo D., Amati S., Biffi M., Martignani C., Frabetti L., Bonvicini M., Rapezzi C., Branzi A.
Stroke 34:901-908(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EDMD2 ASN-63; PRO-140; GLN-249; LEU-377; LYS-386 AND PRO-527.
Ref.86
"A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia."
Goizet C., Yaou R.B., Demay L., Richard P., Bouillot S., Rouanet M., Hermosilla E., Le Masson G., Lagueny A., Bonne G., Ferrer X.
J. Med. Genet. 41:E29-E29(2004) [PubMed] [Europe PMC] [Abstract]
Goizet C., Yaou R.B., Demay L., Richard P., Bouillot S., Rouanet M., Hermosilla E., Le Masson G., Lagueny A., Bonne G., Ferrer X.
J. Med. Genet. 41:E29-E29(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMT2 ASP-33, VARIANT EDMD2 GLY-33.
Ref.87
"Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations."
Muchir A., Medioni J., Laluc M., Massart C., Arimura T., van der Kooi A.J., Desguerre I., Mayer M., Ferrer X., Briault S., Hirano M., Worman H.J., Mallet A., Wehnert M., Schwartz K., Bonne G.
Muscle Nerve 30:444-450(2004) [PubMed] [Europe PMC] [Abstract]
Muchir A., Medioni J., Laluc M., Massart C., Arimura T., van der Kooi A.J., Desguerre I., Mayer M., Ferrer X., Briault S., Hirano M., Worman H.J., Mallet A., Wehnert M., Schwartz K., Bonne G.
Muscle Nerve 30:444-450(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS EDMD2 LYS-32 DEL; SER-63; GLN-249; LYS-358; CYS-401; TRP-453 AND PRO-527, CHARACTERIZATION OF VARIANTS LGMD1B LYS-208 DEL AND HIS-377, CHARACTERIZATION OF VARIANT FPLD2 LEU-482, CHARACTERIZATION OF VARIANT CMD1A CYS-541.
Ref.91
"Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy."
Cenni V., Sabatelli P., Mattioli E., Marmiroli S., Capanni C., Ognibene A., Squarzoni S., Maraldi N.M., Bonne G., Columbaro M., Merlini L., Lattanzi G.
J. Med. Genet. 42:214-220(2005) [PubMed] [Europe PMC] [Abstract]
Cenni V., Sabatelli P., Mattioli E., Marmiroli S., Capanni C., Ognibene A., Squarzoni S., Maraldi N.M., Bonne G., Columbaro M., Merlini L., Lattanzi G.
J. Med. Genet. 42:214-220(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LGMD1B HIS-377, VARIANTS EDMD2 ASN-63; PRO-140; GLN-190; GLN-249 AND PRO-527.
Ref.104
"Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations."
Scharner J., Brown C.A., Bower M., Iannaccone S.T., Khatri I.A., Escolar D., Gordon E., Felice K., Crowe C.A., Grosmann C., Meriggioli M.N., Asamoah A., Gordon O., Gnocchi V.F., Ellis J.A., Mendell J.R., Zammit P.S.
Hum. Mutat. 32:152-167(2011) [PubMed] [Europe PMC] [Abstract]
Scharner J., Brown C.A., Bower M., Iannaccone S.T., Khatri I.A., Escolar D., Gordon E., Felice K., Crowe C.A., Grosmann C., Meriggioli M.N., Asamoah A., Gordon O., Gnocchi V.F., Ellis J.A., Mendell J.R., Zammit P.S.
Hum. Mutat. 32:152-167(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EDMD2 SER-39; CYS-45; PRO-150; PRO-189; ARG-190 INS; LEU-206; TRP-249; GLN-249; PRO-268; PRO-271; PRO-294; PRO-295; PRO-303; GLN-355 DEL; LYS-358; LYS-361; LYS-386; ASP-449; TRP-453; PRO-454; TYR-461; ARG-467; PRO-527; LYS-528; ARG-528; SER-541; PRO-541; SER-602 AND CYS-644, CHARACTERIZATION OF VARIANTS EDMD2 PRO-25; TRP-249; ILE-456 AND PRO-541.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
See also OMIM:181350| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039746 | 25 | R → G in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039747 | 25 | R → P in EDMD2; mis-localized in the nucleus; causes nuclear deformations and LMNB1 redistribution. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039749 | 32 | Missing in EDMD2; abnormal nuclear localization in a honeycomb expression pattern in about 11% of cultured skin fibroblasts from heterozygous patients; no effect on protein level. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039751 | 33 | E → G in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039752 | 35 | L → V in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039753 | 43 | A → T in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009971 | 45 | Y → C in EDMD2. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039754 | 50 | R → S in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039756 | 63 | I → N in EDMD2. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009974 | 63 | I → S in EDMD2; no effect on protein level; no obvious effect on nuclear morphology in cultured skin fibroblasts from heterozygous patients. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039757 | 65 | E → G in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009976 | 112 | Missing in EDMD2. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_017657 | 133 | R → P in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039760 | 140 | L → P in EDMD2. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039762 | 150 | T → P in EDMD2. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064962 | 189 | R → P in EDMD2; found also in a patient with limb-girdle muscular dystrophy; sporadic. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064963 | 190 | R → RR in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039766 | 196 – 199 | RLQT → S in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 4 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064964 | 206 | F → L in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039769 | 222 | H → P in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009979 | 222 | H → Y in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039771 | 232 | G → E in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039772 | 248 | L → P in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009980 | 249 | R → Q in EDMD2; no obvious effect on nuclear morphology in cultured skin fibroblasts from heterozygous patients; no effect on protein level. 9 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009981 | 261 | Missing in EDMD2. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039774 | 267 | Y → C in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064965 | 268 | S → P in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064966 | 271 | L → P in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009982 | 294 | Q → P in EDMD2. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064967 | 295 | S → P in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064968 | 303 | S → P in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009983 | 336 | R → Q in EDMD2. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009984 | 343 | R → Q in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064969 | 355 | Missing in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064970 | 361 | E → K in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009986 | 371 | M → K in EDMD2; dramatically aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; causes an increased loss of endogenous EMD from the nuclear envelope; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009987 | 386 | R → K in EDMD2; dramatically aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; causes an increased loss of endogenous EMD from the nuclear envelope; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_072818 | 401 | R → C in EDMD2; abnormal nuclear localization in a honeycomb expression pattern in about 22% of cultured skin fibroblasts from heterozygous patients; enhances the interaction with SYNE2; no effect on nuclear localization; no effect on protein level. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039780 | 446 | D → V in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064971 | 449 | G → D in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009988 | 453 | R → W in EDMD2; abnormal nuclear localization; forms nuclear foci in about 8% of cultured skin fibroblasts from heterozygous patients; interacts with itself and with wild-type LMNA and LMNB1; no effect on protein level. 8 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064972 | 454 | L → P in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039781 | 456 | N → I in EDMD2; mislocalized in the nucleus; does not alter nuclear size or shape. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039782 | 456 | N → K in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064973 | 461 | D → Y in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064974 | 467 | W → R in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009990 | 469 | I → T in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039784 | 520 | W → S in EDMD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009996 | 528 | T → K in EDMD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039785 | 528 | T → R in EDMD2. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009997 | 530 | L → P in EDMD2; interacts with itself and with wild-type LMNA and LMNB1; reduced binding to SUN1; no decrease in the stability compared with wild-type. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039787 | 541 | R → H in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064975 | 541 | R → P in EDMD2; mis-localized in the nucleus; does not alter nuclear size or shape. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064976 | 602 | G → S in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039791 | 624 | R → H in EDMD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3)2 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.106"Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing."
Jimenez-Escrig A., Gobernado I., Garcia-Villanueva M., Sanchez-Herranz A.
Muscle Nerve 45:605-610(2012) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT EDMD3 GLN-225, FUNCTION. - Ref.109"Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population."
Fattahi Z., Kalhor Z., Fadaee M., Vazehan R., Parsimehr E., Abolhassani A., Beheshtian M., Zamani G., Nafissi S., Nilipour Y., Akbari M.R., Kahrizi K., Kariminejad A., Najmabadi H.
Clin. Genet. 91:386-402(2017) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT EDMD3 SER-24, VARIANT LGMD1B CYS-259.
Ref.106
"Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing."
Jimenez-Escrig A., Gobernado I., Garcia-Villanueva M., Sanchez-Herranz A.
Muscle Nerve 45:605-610(2012) [PubMed] [Europe PMC] [Abstract]
Jimenez-Escrig A., Gobernado I., Garcia-Villanueva M., Sanchez-Herranz A.
Muscle Nerve 45:605-610(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EDMD3 GLN-225, FUNCTION.
Ref.109
"Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population."
Fattahi Z., Kalhor Z., Fadaee M., Vazehan R., Parsimehr E., Abolhassani A., Beheshtian M., Zamani G., Nafissi S., Nilipour Y., Akbari M.R., Kahrizi K., Kariminejad A., Najmabadi H.
Clin. Genet. 91:386-402(2017) [PubMed] [Europe PMC] [Abstract]
Fattahi Z., Kalhor Z., Fadaee M., Vazehan R., Parsimehr E., Abolhassani A., Beheshtian M., Zamani G., Nafissi S., Nilipour Y., Akbari M.R., Kahrizi K., Kariminejad A., Najmabadi H.
Clin. Genet. 91:386-402(2017) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EDMD3 SER-24, VARIANT LGMD1B CYS-259.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
See also OMIM:616516| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_076562 | 24 | T → S in EDMD3. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_067697 | 225 | R → Q in EDMD3. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Cardiomyopathy, dilated 1A (CMD1A)17 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.3"In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients."
Sylvius N., Bilinska Z.T., Veinot J.P., Fidzianska A., Bolongo P.M., Poon S., McKeown P., Davies R.A., Chan K.-L., Tang A.S.L., Dyack S., Grzybowski J., Ruzyllo W., McBride H., Tesson F.
J. Med. Genet. 42:639-647(2005) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), SUBCELLULAR LOCATION (ISOFORM C), VARIANTS CMD1A TRP-190; GLY-192 AND SER-541, CHARACTERIZATION OF VARIANTS CMD1A GLY-192 AND SER-541. - Ref.20"Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies."
Zhang Y.Q., Sarge K.D.
J. Cell Biol. 182:35-39(2008) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION, SUMOYLATION AT LYS-201, MUTAGENESIS OF LYS-201, CHARACTERIZATION OF VARIANTS CMD1A GLY-203 AND LYS-203. - Ref.29"Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy."
Cowan J., Li D., Gonzalez-Quintana J., Morales A., Hershberger R.E.
Circ. Cardiovasc. Genet. 3:6-14(2010) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION, VARIANTS CMD1A LEU-89; PRO-101; PRO-166; GLN-190; LYS-203; SER-210; PRO-215; THR-318; HIS-388; CYS-399 AND HIS-471. - Ref.52"Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease."
Fatkin D., MacRae C., Sasaki T., Wolff M.R., Porcu M., Frenneaux M., Atherton J., Vidaillet H.J. Jr., Spudich S., De Girolami U., Seidman J.G., Seidman C.E.
N. Engl. J. Med. 341:1715-1724(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMD1A GLY-60; ARG-85; LYS-195 AND GLY-203, FUNCTION. - Ref.61"Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease."
Jakobs P.M., Hanson E.L., Crispell K.A., Toy W., Keegan H., Schilling K., Icenogle T.B., Litt M., Hershberger R.E.
J. Card. Fail. 7:249-256(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMD1A LYS-203. - Ref.62"Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy."
Oestlund C., Bonne G., Schwartz K., Worman H.J.
J. Cell Sci. 114:4435-4445(2001) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CMD1A GLY-60; ARG-85; LYS-195 AND GLY-203, CHARACTERIZATION OF VARIANTS EDMD2 LYS-358; LYS-371; LYS-386; TRP-453; SER-520; PRO-527; LYS-528 AND PRO-530, CHARACTERIZATION OF VARIANTS FPLD2 GLN-482; TRP-482 AND ASN-486. - Ref.64"A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation."
Hershberger R.E., Hanson E.L., Jakobs P.M., Keegan H., Coates K., Bousman S., Litt M.
Am. Heart J. 144:1081-1086(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMD1A PRO-215. - Ref.68"Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease."
Arbustini E., Pilotto A., Repetto A., Grasso M., Negri A., Diegoli M., Campana C., Scelsi L., Baldini E., Gavazzi A., Tavazzi L.
J. Am. Coll. Cardiol. 39:981-990(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMD1A GLU-97; TRP-190 AND LYS-317. - Ref.72"Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation."
Forissier J.-F., Bonne G., Bouchier C., Duboscq-Bidot L., Richard P., Wisnewski C., Briault S., Moraine C., Dubourg O., Schwartz K., Komajda M.
Eur. J. Heart Fail. 5:821-825(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMD1A CYS-541. - Ref.74"Natural history of dilated cardiomyopathy due to lamin A/C gene mutations."
Familial dilated cardiomyopathy registry research group
Taylor M.R.G., Fain P.R., Sinagra G., Robinson M.L., Robertson A.D., Carniel E., Di Lenarda A., Bohlmeyer T.J., Ferguson D.A., Brodsky G.L., Boucek M.M., Lascor J., Moss A.C., Li W.-L.P., Stetler G.L., Muntoni F., Bristow M.R., Mestroni L.
J. Am. Coll. Cardiol. 41:771-780(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMD1A LEU-89; HIS-377 AND LEU-573. - Ref.77"Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations."
Sebillon P., Bouchier C., Bidot L.D., Bonne G., Ahamed K., Charron P., Drouin-Garraud V., Millaire A., Desrumeaux G., Benaiche A., Charniot J.-C., Schwartz K., Villard E., Komajda M.
J. Med. Genet. 40:560-567(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMD1A LYS-161. - Ref.78"Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes."
Vytopil M., Benedetti S., Ricci E., Galluzzi G., Dello Russo A., Merlini L., Boriani G., Gallina M., Morandi L., Politano L., Moggio M., Chiveri L., Hausmanova-Petrusewicz I., Ricotti R., Vohanka S., Toman J., Toniolo D.
J. Med. Genet. 40:E132-E132(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS EDMD2 GLY-25; LYS-32 DEL; VAL-35; GLY-65; GLU-112 DEL; PRO-248; GLN-249; CYS-267; VAL-446; TRP-453; ARG-528 AND HIS-541, VARIANT CMD1A CYS-435. - Ref.81"Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations."
Hermida-Prieto M., Monserrat L., Castro-Beiras A., Laredo R., Soler R., Peteiro J., Rodriguez E., Bouzas B., Alvarez N., Muniz J., Crespo-Leiro M.
Am. J. Cardiol. 94:50-54(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMD1A TRP-190 AND LEU-349. - Ref.82"A novel mutation, Ser143Pro, in the lamin A/C gene is common in Finnish patients with familial dilated cardiomyopathy."
Kaerkkaeinen S., Helioe T., Miettinen R., Tuomainen P., Peltola P., Rummukainen J., Ylitalo K., Kaartinen M., Kuusisto J., Toivonen L., Nieminen M.S., Laakso M., Peuhkurinen K.
Eur. Heart J. 25:885-893(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMD1A PRO-143. - Ref.87"Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations."
Muchir A., Medioni J., Laluc M., Massart C., Arimura T., van der Kooi A.J., Desguerre I., Mayer M., Ferrer X., Briault S., Hirano M., Worman H.J., Mallet A., Wehnert M., Schwartz K., Bonne G.
Muscle Nerve 30:444-450(2004) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS EDMD2 LYS-32 DEL; SER-63; GLN-249; LYS-358; CYS-401; TRP-453 AND PRO-527, CHARACTERIZATION OF VARIANTS LGMD1B LYS-208 DEL AND HIS-377, CHARACTERIZATION OF VARIANT FPLD2 LEU-482, CHARACTERIZATION OF VARIANT CMD1A CYS-541. - Ref.101"Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene."
Saj M., Jankowska A., Lewandowski M., Szwed H., Szperl M., Ploski R., Bilinska Z.T.
Int. J. Cardiol. 144:E51-E53(2010) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMD1A CYS-541. - Ref.102"Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy."
Millat G., Bouvagnet P., Chevalier P., Sebbag L., Dulac A., Dauphin C., Jouk P.S., Delrue M.A., Thambo J.B., Le Metayer P., Seronde M.F., Faivre L., Eicher J.C., Rousson R.
Eur. J. Med. Genet. 54:E570-E575(2011) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CMD1A PHE-92; LYS-161; LYS-317 AND ARG-523.
Ref.3
"In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients."
Sylvius N., Bilinska Z.T., Veinot J.P., Fidzianska A., Bolongo P.M., Poon S., McKeown P., Davies R.A., Chan K.-L., Tang A.S.L., Dyack S., Grzybowski J., Ruzyllo W., McBride H., Tesson F.
J. Med. Genet. 42:639-647(2005) [PubMed] [Europe PMC] [Abstract]
Sylvius N., Bilinska Z.T., Veinot J.P., Fidzianska A., Bolongo P.M., Poon S., McKeown P., Davies R.A., Chan K.-L., Tang A.S.L., Dyack S., Grzybowski J., Ruzyllo W., McBride H., Tesson F.
J. Med. Genet. 42:639-647(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), SUBCELLULAR LOCATION (ISOFORM C), VARIANTS CMD1A TRP-190; GLY-192 AND SER-541, CHARACTERIZATION OF VARIANTS CMD1A GLY-192 AND SER-541.
Ref.20
"Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies."
Zhang Y.Q., Sarge K.D.
J. Cell Biol. 182:35-39(2008) [PubMed] [Europe PMC] [Abstract]
Zhang Y.Q., Sarge K.D.
J. Cell Biol. 182:35-39(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, SUMOYLATION AT LYS-201, MUTAGENESIS OF LYS-201, CHARACTERIZATION OF VARIANTS CMD1A GLY-203 AND LYS-203.
Ref.29
"Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy."
Cowan J., Li D., Gonzalez-Quintana J., Morales A., Hershberger R.E.
Circ. Cardiovasc. Genet. 3:6-14(2010) [PubMed] [Europe PMC] [Abstract]
Cowan J., Li D., Gonzalez-Quintana J., Morales A., Hershberger R.E.
Circ. Cardiovasc. Genet. 3:6-14(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, VARIANTS CMD1A LEU-89; PRO-101; PRO-166; GLN-190; LYS-203; SER-210; PRO-215; THR-318; HIS-388; CYS-399 AND HIS-471.
Ref.52
"Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease."
Fatkin D., MacRae C., Sasaki T., Wolff M.R., Porcu M., Frenneaux M., Atherton J., Vidaillet H.J. Jr., Spudich S., De Girolami U., Seidman J.G., Seidman C.E.
N. Engl. J. Med. 341:1715-1724(1999) [PubMed] [Europe PMC] [Abstract]
Fatkin D., MacRae C., Sasaki T., Wolff M.R., Porcu M., Frenneaux M., Atherton J., Vidaillet H.J. Jr., Spudich S., De Girolami U., Seidman J.G., Seidman C.E.
N. Engl. J. Med. 341:1715-1724(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMD1A GLY-60; ARG-85; LYS-195 AND GLY-203, FUNCTION.
Ref.61
"Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease."
Jakobs P.M., Hanson E.L., Crispell K.A., Toy W., Keegan H., Schilling K., Icenogle T.B., Litt M., Hershberger R.E.
J. Card. Fail. 7:249-256(2001) [PubMed] [Europe PMC] [Abstract]
Jakobs P.M., Hanson E.L., Crispell K.A., Toy W., Keegan H., Schilling K., Icenogle T.B., Litt M., Hershberger R.E.
J. Card. Fail. 7:249-256(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMD1A LYS-203.
Ref.62
"Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy."
Oestlund C., Bonne G., Schwartz K., Worman H.J.
J. Cell Sci. 114:4435-4445(2001) [PubMed] [Europe PMC] [Abstract]
Oestlund C., Bonne G., Schwartz K., Worman H.J.
J. Cell Sci. 114:4435-4445(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS CMD1A GLY-60; ARG-85; LYS-195 AND GLY-203, CHARACTERIZATION OF VARIANTS EDMD2 LYS-358; LYS-371; LYS-386; TRP-453; SER-520; PRO-527; LYS-528 AND PRO-530, CHARACTERIZATION OF VARIANTS FPLD2 GLN-482; TRP-482 AND ASN-486.
Ref.64
"A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation."
Hershberger R.E., Hanson E.L., Jakobs P.M., Keegan H., Coates K., Bousman S., Litt M.
Am. Heart J. 144:1081-1086(2002) [PubMed] [Europe PMC] [Abstract]
Hershberger R.E., Hanson E.L., Jakobs P.M., Keegan H., Coates K., Bousman S., Litt M.
Am. Heart J. 144:1081-1086(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMD1A PRO-215.
Ref.68
"Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease."
Arbustini E., Pilotto A., Repetto A., Grasso M., Negri A., Diegoli M., Campana C., Scelsi L., Baldini E., Gavazzi A., Tavazzi L.
J. Am. Coll. Cardiol. 39:981-990(2002) [PubMed] [Europe PMC] [Abstract]
Arbustini E., Pilotto A., Repetto A., Grasso M., Negri A., Diegoli M., Campana C., Scelsi L., Baldini E., Gavazzi A., Tavazzi L.
J. Am. Coll. Cardiol. 39:981-990(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMD1A GLU-97; TRP-190 AND LYS-317.
Ref.72
"Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation."
Forissier J.-F., Bonne G., Bouchier C., Duboscq-Bidot L., Richard P., Wisnewski C., Briault S., Moraine C., Dubourg O., Schwartz K., Komajda M.
Eur. J. Heart Fail. 5:821-825(2003) [PubMed] [Europe PMC] [Abstract]
Forissier J.-F., Bonne G., Bouchier C., Duboscq-Bidot L., Richard P., Wisnewski C., Briault S., Moraine C., Dubourg O., Schwartz K., Komajda M.
Eur. J. Heart Fail. 5:821-825(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMD1A CYS-541.
Ref.74
"Natural history of dilated cardiomyopathy due to lamin A/C gene mutations."
Familial dilated cardiomyopathy registry research group
Taylor M.R.G., Fain P.R., Sinagra G., Robinson M.L., Robertson A.D., Carniel E., Di Lenarda A., Bohlmeyer T.J., Ferguson D.A., Brodsky G.L., Boucek M.M., Lascor J., Moss A.C., Li W.-L.P., Stetler G.L., Muntoni F., Bristow M.R., Mestroni L.
J. Am. Coll. Cardiol. 41:771-780(2003) [PubMed] [Europe PMC] [Abstract]
Familial dilated cardiomyopathy registry research group
Taylor M.R.G., Fain P.R., Sinagra G., Robinson M.L., Robertson A.D., Carniel E., Di Lenarda A., Bohlmeyer T.J., Ferguson D.A., Brodsky G.L., Boucek M.M., Lascor J., Moss A.C., Li W.-L.P., Stetler G.L., Muntoni F., Bristow M.R., Mestroni L.
J. Am. Coll. Cardiol. 41:771-780(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMD1A LEU-89; HIS-377 AND LEU-573.
Ref.77
"Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations."
Sebillon P., Bouchier C., Bidot L.D., Bonne G., Ahamed K., Charron P., Drouin-Garraud V., Millaire A., Desrumeaux G., Benaiche A., Charniot J.-C., Schwartz K., Villard E., Komajda M.
J. Med. Genet. 40:560-567(2003) [PubMed] [Europe PMC] [Abstract]
Sebillon P., Bouchier C., Bidot L.D., Bonne G., Ahamed K., Charron P., Drouin-Garraud V., Millaire A., Desrumeaux G., Benaiche A., Charniot J.-C., Schwartz K., Villard E., Komajda M.
J. Med. Genet. 40:560-567(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMD1A LYS-161.
Ref.78
"Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes."
Vytopil M., Benedetti S., Ricci E., Galluzzi G., Dello Russo A., Merlini L., Boriani G., Gallina M., Morandi L., Politano L., Moggio M., Chiveri L., Hausmanova-Petrusewicz I., Ricotti R., Vohanka S., Toman J., Toniolo D.
J. Med. Genet. 40:E132-E132(2003) [PubMed] [Europe PMC] [Abstract]
Vytopil M., Benedetti S., Ricci E., Galluzzi G., Dello Russo A., Merlini L., Boriani G., Gallina M., Morandi L., Politano L., Moggio M., Chiveri L., Hausmanova-Petrusewicz I., Ricotti R., Vohanka S., Toman J., Toniolo D.
J. Med. Genet. 40:E132-E132(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EDMD2 GLY-25; LYS-32 DEL; VAL-35; GLY-65; GLU-112 DEL; PRO-248; GLN-249; CYS-267; VAL-446; TRP-453; ARG-528 AND HIS-541, VARIANT CMD1A CYS-435.
Ref.81
"Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations."
Hermida-Prieto M., Monserrat L., Castro-Beiras A., Laredo R., Soler R., Peteiro J., Rodriguez E., Bouzas B., Alvarez N., Muniz J., Crespo-Leiro M.
Am. J. Cardiol. 94:50-54(2004) [PubMed] [Europe PMC] [Abstract]
Hermida-Prieto M., Monserrat L., Castro-Beiras A., Laredo R., Soler R., Peteiro J., Rodriguez E., Bouzas B., Alvarez N., Muniz J., Crespo-Leiro M.
Am. J. Cardiol. 94:50-54(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMD1A TRP-190 AND LEU-349.
Ref.82
"A novel mutation, Ser143Pro, in the lamin A/C gene is common in Finnish patients with familial dilated cardiomyopathy."
Kaerkkaeinen S., Helioe T., Miettinen R., Tuomainen P., Peltola P., Rummukainen J., Ylitalo K., Kaartinen M., Kuusisto J., Toivonen L., Nieminen M.S., Laakso M., Peuhkurinen K.
Eur. Heart J. 25:885-893(2004) [PubMed] [Europe PMC] [Abstract]
Kaerkkaeinen S., Helioe T., Miettinen R., Tuomainen P., Peltola P., Rummukainen J., Ylitalo K., Kaartinen M., Kuusisto J., Toivonen L., Nieminen M.S., Laakso M., Peuhkurinen K.
Eur. Heart J. 25:885-893(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMD1A PRO-143.
Ref.87
"Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations."
Muchir A., Medioni J., Laluc M., Massart C., Arimura T., van der Kooi A.J., Desguerre I., Mayer M., Ferrer X., Briault S., Hirano M., Worman H.J., Mallet A., Wehnert M., Schwartz K., Bonne G.
Muscle Nerve 30:444-450(2004) [PubMed] [Europe PMC] [Abstract]
Muchir A., Medioni J., Laluc M., Massart C., Arimura T., van der Kooi A.J., Desguerre I., Mayer M., Ferrer X., Briault S., Hirano M., Worman H.J., Mallet A., Wehnert M., Schwartz K., Bonne G.
Muscle Nerve 30:444-450(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS EDMD2 LYS-32 DEL; SER-63; GLN-249; LYS-358; CYS-401; TRP-453 AND PRO-527, CHARACTERIZATION OF VARIANTS LGMD1B LYS-208 DEL AND HIS-377, CHARACTERIZATION OF VARIANT FPLD2 LEU-482, CHARACTERIZATION OF VARIANT CMD1A CYS-541.
Ref.101
"Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene."
Saj M., Jankowska A., Lewandowski M., Szwed H., Szperl M., Ploski R., Bilinska Z.T.
Int. J. Cardiol. 144:E51-E53(2010) [PubMed] [Europe PMC] [Abstract]
Saj M., Jankowska A., Lewandowski M., Szwed H., Szperl M., Ploski R., Bilinska Z.T.
Int. J. Cardiol. 144:E51-E53(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMD1A CYS-541.
Ref.102
"Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy."
Millat G., Bouvagnet P., Chevalier P., Sebbag L., Dulac A., Dauphin C., Jouk P.S., Delrue M.A., Thambo J.B., Le Metayer P., Seronde M.F., Faivre L., Eicher J.C., Rousson R.
Eur. J. Med. Genet. 54:E570-E575(2011) [PubMed] [Europe PMC] [Abstract]
Millat G., Bouvagnet P., Chevalier P., Sebbag L., Dulac A., Dauphin C., Jouk P.S., Delrue M.A., Thambo J.B., Le Metayer P., Seronde M.F., Faivre L., Eicher J.C., Rousson R.
Eur. J. Med. Genet. 54:E570-E575(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMD1A PHE-92; LYS-161; LYS-317 AND ARG-523.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:115200| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009975 | 85 | L → R in CMD1A; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039758 | 89 | R → L in CMD1A; dramatically aberrant localization with almost no nuclear rim staining and formation of intranuclear foci. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_067257 | 92 | L → F in CMD1A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039759 | 97 | K → E in CMD1A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070174 | 101 | R → P in CMD1A; dramatically aberrant localization with almost no nuclear rim staining and formation of intranuclear foci. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039761 | 143 | S → P in CMD1A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_017660 | 161 | E → K in CMD1A. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070176 | 166 | R → P in CMD1A; dramatically aberrant localization with almost no nuclear rim staining and formation of intranuclear foci. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039764 | 190 | R → W in CMD1A. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039765 | 192 | D → G in CMD1A; dramatically increases the size of intranuclear speckles and reduces their number; this phenotype is only partially reversed by coexpression of the G-192 mutation and wild-type lamin-C; precludes insertion of lamin-C into the nuclear envelope when co-transfected with the G-192 LMNA; G-192 lamin-C expression totally disrupts the SUMO1 pattern. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009977 | 195 | N → K in CMD1A; dramatically aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; distribution of endogenous LMNA, LMNB1 and LMNB2 are altered in cells expressing this mutant; causes an increased loss of endogenous EMD from the nuclear envelope; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009978 | 203 | E → G in CMD1A; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type; decreased sumoylation; aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; associated with increased cell death. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039767 | 203 | E → K in CMD1A; decreased sumoylation; aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; associated with increased cell death. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070177 | 210 | I → S in CMD1A; dramatically aberrant localization with almost no nuclear rim staining and increased formation of intranuclear foci. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039768 | 215 | L → P in CMD1A; aberrant localization with decreased nuclear rim staining and formation of intranuclear foci. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039775 | 317 | E → K in CMD1A. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070179 | 318 | A → T in CMD1A; no effect on nuclear morphology and lamin A localization. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039776 | 349 | R → L in CMD1A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070180 | 388 | R → H in CMD1A; no effect on nuclear morphology but restricts lamin A to the cytoplasm. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039779 | 435 | R → C in CMD1A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070182 | 471 | R → H in CMD1A; no effect on nuclear morphology and lamin A localization. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_067258 | 523 | G → R in CMD1A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039786 | 541 | R → C in CMD1A; grossly abnormal nuclear shape with the nuclear envelope producing prominent lobules in about 10% of cultured skin fibroblasts from heterozygous patients. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039789 | 573 | S → L in CMD1A, FPLD2 and MADA. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Lipodystrophy, familial partial, 2 (FPLD2)11 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.26"The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress."
Verstraeten V.L., Caputo S., van Steensel M.A., Duband-Goulet I., Zinn-Justin S., Kamps M., Kuijpers H.J., Ostlund C., Worman H.J., Briede J.J., Le Dour C., Marcelis C.L., van Geel M., Steijlen P.M., van den Wijngaard A., Ramaekers F.C., Broers J.L.
J. Cell. Mol. Med. 13:959-971(2009) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FPLD2 CYS-439 AND TRP-482. - Ref.53"Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C."
Speckman R.A., Garg A., Du F., Bennett L., Veile R., Arioglu E., Taylor S.I., Lovett M., Bowcock A.M.
Am. J. Hum. Genet. 66:1192-1198(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS FPLD2 ASP-465; GLN-482; TRP-482 AND HIS-582. - Ref.56"Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy."
Cao H., Hegele R.A.
Hum. Mol. Genet. 9:109-112(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT FPLD2 GLN-482. - Ref.58"LMNA, encoding lamin A/C, is mutated in partial lipodystrophy."
Shackleton S., Lloyd D.J., Jackson S.N.J., Evans R., Niermeijer M.F., Singh B.M., Schmidt H., Brabant G., Kumar S., Durrington P.N., Gregory S., O'Rahilly S., Trembath R.C.
Nat. Genet. 24:153-156(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS FPLD2 LEU-482 AND TRP-482. - Ref.62"Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy."
Oestlund C., Bonne G., Schwartz K., Worman H.J.
J. Cell Sci. 114:4435-4445(2001) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS CMD1A GLY-60; ARG-85; LYS-195 AND GLY-203, CHARACTERIZATION OF VARIANTS EDMD2 LYS-358; LYS-371; LYS-386; TRP-453; SER-520; PRO-527; LYS-528 AND PRO-530, CHARACTERIZATION OF VARIANTS FPLD2 GLN-482; TRP-482 AND ASN-486. - Ref.67"Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene."
Garg A., Speckman R.A., Bowcock A.M.
Am. J. Med. 112:549-555(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS FPLD2 TRP-28 AND GLY-62. - Ref.70"Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy."
van der Kooi A.J., Bonne G., Eymard B., Duboc D., Talim B., Van der Valk M., Reiss P., Richard P., Demay L., Merlini L., Schwartz K., Busch H.F.M., de Visser M.
Neurology 59:620-623(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS FPLD2 GLY-60 AND PRO-527. - Ref.75"A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy."
Caux F., Dubosclard E., Lascols O., Buendia B., Chazouilleres O., Cohen A., Courvalin J.-C., Laroche L., Capeau J., Vigouroux C., Christin-Maitre S.
J. Clin. Endocrinol. Metab. 88:1006-1013(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT FPLD2 LEU-133. - Ref.87"Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations."
Muchir A., Medioni J., Laluc M., Massart C., Arimura T., van der Kooi A.J., Desguerre I., Mayer M., Ferrer X., Briault S., Hirano M., Worman H.J., Mallet A., Wehnert M., Schwartz K., Bonne G.
Muscle Nerve 30:444-450(2004) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS EDMD2 LYS-32 DEL; SER-63; GLN-249; LYS-358; CYS-401; TRP-453 AND PRO-527, CHARACTERIZATION OF VARIANTS LGMD1B LYS-208 DEL AND HIS-377, CHARACTERIZATION OF VARIANT FPLD2 LEU-482, CHARACTERIZATION OF VARIANT CMD1A CYS-541. - Ref.94"Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660)."
Lanktree M., Cao H., Rabkin S.W., Hanna A., Hegele R.A.
Clin. Genet. 71:183-186(2007) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS FPLD2 ASN-230; CYS-399 AND LEU-573. - Ref.108"LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response."
Chirico V., Ferrau V., Loddo I., Briuglia S., Amorini M., Salpietro V., Lacquaniti A., Salpietro C., Arrigo T.
Diabetes Metab. 40:224-228(2014) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT FPLD2 GLU-515.
Ref.26
"The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress."
Verstraeten V.L., Caputo S., van Steensel M.A., Duband-Goulet I., Zinn-Justin S., Kamps M., Kuijpers H.J., Ostlund C., Worman H.J., Briede J.J., Le Dour C., Marcelis C.L., van Geel M., Steijlen P.M., van den Wijngaard A., Ramaekers F.C., Broers J.L.
J. Cell. Mol. Med. 13:959-971(2009) [PubMed] [Europe PMC] [Abstract]
Verstraeten V.L., Caputo S., van Steensel M.A., Duband-Goulet I., Zinn-Justin S., Kamps M., Kuijpers H.J., Ostlund C., Worman H.J., Briede J.J., Le Dour C., Marcelis C.L., van Geel M., Steijlen P.M., van den Wijngaard A., Ramaekers F.C., Broers J.L.
J. Cell. Mol. Med. 13:959-971(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FPLD2 CYS-439 AND TRP-482.
Ref.53
"Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C."
Speckman R.A., Garg A., Du F., Bennett L., Veile R., Arioglu E., Taylor S.I., Lovett M., Bowcock A.M.
Am. J. Hum. Genet. 66:1192-1198(2000) [PubMed] [Europe PMC] [Abstract]
Speckman R.A., Garg A., Du F., Bennett L., Veile R., Arioglu E., Taylor S.I., Lovett M., Bowcock A.M.
Am. J. Hum. Genet. 66:1192-1198(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FPLD2 ASP-465; GLN-482; TRP-482 AND HIS-582.
Ref.56
"Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy."
Cao H., Hegele R.A.
Hum. Mol. Genet. 9:109-112(2000) [PubMed] [Europe PMC] [Abstract]
Cao H., Hegele R.A.
Hum. Mol. Genet. 9:109-112(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FPLD2 GLN-482.
Ref.58
"LMNA, encoding lamin A/C, is mutated in partial lipodystrophy."
Shackleton S., Lloyd D.J., Jackson S.N.J., Evans R., Niermeijer M.F., Singh B.M., Schmidt H., Brabant G., Kumar S., Durrington P.N., Gregory S., O'Rahilly S., Trembath R.C.
Nat. Genet. 24:153-156(2000) [PubMed] [Europe PMC] [Abstract]
Shackleton S., Lloyd D.J., Jackson S.N.J., Evans R., Niermeijer M.F., Singh B.M., Schmidt H., Brabant G., Kumar S., Durrington P.N., Gregory S., O'Rahilly S., Trembath R.C.
Nat. Genet. 24:153-156(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FPLD2 LEU-482 AND TRP-482.
Ref.62
"Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy."
Oestlund C., Bonne G., Schwartz K., Worman H.J.
J. Cell Sci. 114:4435-4445(2001) [PubMed] [Europe PMC] [Abstract]
Oestlund C., Bonne G., Schwartz K., Worman H.J.
J. Cell Sci. 114:4435-4445(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS CMD1A GLY-60; ARG-85; LYS-195 AND GLY-203, CHARACTERIZATION OF VARIANTS EDMD2 LYS-358; LYS-371; LYS-386; TRP-453; SER-520; PRO-527; LYS-528 AND PRO-530, CHARACTERIZATION OF VARIANTS FPLD2 GLN-482; TRP-482 AND ASN-486.
Ref.67
"Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene."
Garg A., Speckman R.A., Bowcock A.M.
Am. J. Med. 112:549-555(2002) [PubMed] [Europe PMC] [Abstract]
Garg A., Speckman R.A., Bowcock A.M.
Am. J. Med. 112:549-555(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FPLD2 TRP-28 AND GLY-62.
Ref.70
"Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy."
van der Kooi A.J., Bonne G., Eymard B., Duboc D., Talim B., Van der Valk M., Reiss P., Richard P., Demay L., Merlini L., Schwartz K., Busch H.F.M., de Visser M.
Neurology 59:620-623(2002) [PubMed] [Europe PMC] [Abstract]
van der Kooi A.J., Bonne G., Eymard B., Duboc D., Talim B., Van der Valk M., Reiss P., Richard P., Demay L., Merlini L., Schwartz K., Busch H.F.M., de Visser M.
Neurology 59:620-623(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FPLD2 GLY-60 AND PRO-527.
Ref.75
"A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy."
Caux F., Dubosclard E., Lascols O., Buendia B., Chazouilleres O., Cohen A., Courvalin J.-C., Laroche L., Capeau J., Vigouroux C., Christin-Maitre S.
J. Clin. Endocrinol. Metab. 88:1006-1013(2003) [PubMed] [Europe PMC] [Abstract]
Caux F., Dubosclard E., Lascols O., Buendia B., Chazouilleres O., Cohen A., Courvalin J.-C., Laroche L., Capeau J., Vigouroux C., Christin-Maitre S.
J. Clin. Endocrinol. Metab. 88:1006-1013(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FPLD2 LEU-133.
Ref.87
"Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations."
Muchir A., Medioni J., Laluc M., Massart C., Arimura T., van der Kooi A.J., Desguerre I., Mayer M., Ferrer X., Briault S., Hirano M., Worman H.J., Mallet A., Wehnert M., Schwartz K., Bonne G.
Muscle Nerve 30:444-450(2004) [PubMed] [Europe PMC] [Abstract]
Muchir A., Medioni J., Laluc M., Massart C., Arimura T., van der Kooi A.J., Desguerre I., Mayer M., Ferrer X., Briault S., Hirano M., Worman H.J., Mallet A., Wehnert M., Schwartz K., Bonne G.
Muscle Nerve 30:444-450(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS EDMD2 LYS-32 DEL; SER-63; GLN-249; LYS-358; CYS-401; TRP-453 AND PRO-527, CHARACTERIZATION OF VARIANTS LGMD1B LYS-208 DEL AND HIS-377, CHARACTERIZATION OF VARIANT FPLD2 LEU-482, CHARACTERIZATION OF VARIANT CMD1A CYS-541.
Ref.94
"Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660)."
Lanktree M., Cao H., Rabkin S.W., Hanna A., Hegele R.A.
Clin. Genet. 71:183-186(2007) [PubMed] [Europe PMC] [Abstract]
Lanktree M., Cao H., Rabkin S.W., Hanna A., Hegele R.A.
Clin. Genet. 71:183-186(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FPLD2 ASN-230; CYS-399 AND LEU-573.
Ref.108
"LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response."
Chirico V., Ferrau V., Loddo I., Briuglia S., Amorini M., Salpietro V., Lacquaniti A., Salpietro C., Arrigo T.
Diabetes Metab. 40:224-228(2014) [PubMed] [Europe PMC] [Abstract]
Chirico V., Ferrau V., Loddo I., Briuglia S., Amorini M., Salpietro V., Lacquaniti A., Salpietro C., Arrigo T.
Diabetes Metab. 40:224-228(2014) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FPLD2 GLU-515.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by the loss of subcutaneous adipose tissue in the lower parts of the body (limbs, buttocks, trunk). It is accompanied by an accumulation of adipose tissue in the face and neck causing a double chin, fat neck, or cushingoid appearance. Adipose tissue may also accumulate in the axillae, back, labia majora, and intraabdominal region. Affected patients are insulin-resistant and may develop glucose intolerance and diabetes mellitus after age 20 years, hypertriglyceridemia, and low levels of high density lipoprotein cholesterol.
See also OMIM:151660| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039748 | 28 | R → W in FPLD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039755 | 62 | R → G in FPLD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_016913 | 133 | R → L in FPLD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039770 | 230 | D → N in FPLD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070181 | 439 | R → C in FPLD2; increase in nuclear blebbing and formation of honeycomb-like structures in the nuclei with no accumulation of prelamin A in skin fibroblasts; causes oligomerization of the C-terminal globular domain of lamins A and C under no-reducing conditions and increases binding affinity for DNA; increases sensitivity to oxidative stress; no significant differences in stability and structure compared with the wild-type. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009989 | 465 | G → D in FPLD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009991 | 482 | R → L in FPLD2; abnormal nuclear localization in a honeycomb expression pattern in about 10% of cultured skin fibroblasts from heterozygous patients; no effect on protein level. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009992 | 482 | R → Q in FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009993 | 482 | R → W in FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type; decreases binding affinity for DNA; increases sensitivity to oxidative stress. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009994 | 486 | K → N in FPLD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071968 | 515 | K → E in FPLD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009998 | 582 | R → H in FPLD2. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Limb-girdle muscular dystrophy 1B (LGMD1B)8 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.57"Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)."
Muchir A., Bonne G., van der Kooi A.J., van Meegen M., Baas F., Bolhuis P.A., de Visser M., Schwartz K.
Hum. Mol. Genet. 9:1453-1459(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS LGMD1B LYS-208 DEL AND HIS-377, FUNCTION. - Ref.63"A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block."
Kitaguchi T., Matsubara S., Sato M., Miyamoto K., Hirai S., Schwartz K., Bonne G.
Neuromuscul. Disord. 11:542-546(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT LGMD1B HIS-481. - Ref.69"Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B."
Ki C.-S., Hong J.S., Jeong G.-Y., Ahn K.J., Choi K.-M., Kim D.-K., Kim J.-W.
J. Hum. Genet. 47:225-228(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT EDMD2 GLN-249, VARIANT LGMD1B LEU-377. - Ref.73"Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype."
Charniot J.-C., Pascal C., Bouchier C., Sebillon P., Salama J., Duboscq-Bidot L., Peuchmaurd M., Desnos M., Artigou J.-Y., Komajda M.
Hum. Mutat. 21:473-481(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT LGMD1B HIS-377. - Ref.87"Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations."
Muchir A., Medioni J., Laluc M., Massart C., Arimura T., van der Kooi A.J., Desguerre I., Mayer M., Ferrer X., Briault S., Hirano M., Worman H.J., Mallet A., Wehnert M., Schwartz K., Bonne G.
Muscle Nerve 30:444-450(2004) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS EDMD2 LYS-32 DEL; SER-63; GLN-249; LYS-358; CYS-401; TRP-453 AND PRO-527, CHARACTERIZATION OF VARIANTS LGMD1B LYS-208 DEL AND HIS-377, CHARACTERIZATION OF VARIANT FPLD2 LEU-482, CHARACTERIZATION OF VARIANT CMD1A CYS-541. - Ref.91"Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy."
Cenni V., Sabatelli P., Mattioli E., Marmiroli S., Capanni C., Ognibene A., Squarzoni S., Maraldi N.M., Bonne G., Columbaro M., Merlini L., Lattanzi G.
J. Med. Genet. 42:214-220(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT LGMD1B HIS-377, VARIANTS EDMD2 ASN-63; PRO-140; GLN-190; GLN-249 AND PRO-527. - Ref.95"Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy."
Rudnik-Schoeneborn S., Botzenhart E., Eggermann T., Senderek J., Schoser B.G.H., Schroeder R., Wehnert M., Wirth B., Zerres K.
Neurogenetics 8:137-142(2007) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT LGMD1B HIS-377. - Ref.109"Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population."
Fattahi Z., Kalhor Z., Fadaee M., Vazehan R., Parsimehr E., Abolhassani A., Beheshtian M., Zamani G., Nafissi S., Nilipour Y., Akbari M.R., Kahrizi K., Kariminejad A., Najmabadi H.
Clin. Genet. 91:386-402(2017) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT EDMD3 SER-24, VARIANT LGMD1B CYS-259.
Ref.57
"Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)."
Muchir A., Bonne G., van der Kooi A.J., van Meegen M., Baas F., Bolhuis P.A., de Visser M., Schwartz K.
Hum. Mol. Genet. 9:1453-1459(2000) [PubMed] [Europe PMC] [Abstract]
Muchir A., Bonne G., van der Kooi A.J., van Meegen M., Baas F., Bolhuis P.A., de Visser M., Schwartz K.
Hum. Mol. Genet. 9:1453-1459(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LGMD1B LYS-208 DEL AND HIS-377, FUNCTION.
Ref.63
"A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block."
Kitaguchi T., Matsubara S., Sato M., Miyamoto K., Hirai S., Schwartz K., Bonne G.
Neuromuscul. Disord. 11:542-546(2001) [PubMed] [Europe PMC] [Abstract]
Kitaguchi T., Matsubara S., Sato M., Miyamoto K., Hirai S., Schwartz K., Bonne G.
Neuromuscul. Disord. 11:542-546(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LGMD1B HIS-481.
Ref.69
"Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B."
Ki C.-S., Hong J.S., Jeong G.-Y., Ahn K.J., Choi K.-M., Kim D.-K., Kim J.-W.
J. Hum. Genet. 47:225-228(2002) [PubMed] [Europe PMC] [Abstract]
Ki C.-S., Hong J.S., Jeong G.-Y., Ahn K.J., Choi K.-M., Kim D.-K., Kim J.-W.
J. Hum. Genet. 47:225-228(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EDMD2 GLN-249, VARIANT LGMD1B LEU-377.
Ref.73
"Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype."
Charniot J.-C., Pascal C., Bouchier C., Sebillon P., Salama J., Duboscq-Bidot L., Peuchmaurd M., Desnos M., Artigou J.-Y., Komajda M.
Hum. Mutat. 21:473-481(2003) [PubMed] [Europe PMC] [Abstract]
Charniot J.-C., Pascal C., Bouchier C., Sebillon P., Salama J., Duboscq-Bidot L., Peuchmaurd M., Desnos M., Artigou J.-Y., Komajda M.
Hum. Mutat. 21:473-481(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LGMD1B HIS-377.
Ref.87
"Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations."
Muchir A., Medioni J., Laluc M., Massart C., Arimura T., van der Kooi A.J., Desguerre I., Mayer M., Ferrer X., Briault S., Hirano M., Worman H.J., Mallet A., Wehnert M., Schwartz K., Bonne G.
Muscle Nerve 30:444-450(2004) [PubMed] [Europe PMC] [Abstract]
Muchir A., Medioni J., Laluc M., Massart C., Arimura T., van der Kooi A.J., Desguerre I., Mayer M., Ferrer X., Briault S., Hirano M., Worman H.J., Mallet A., Wehnert M., Schwartz K., Bonne G.
Muscle Nerve 30:444-450(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS EDMD2 LYS-32 DEL; SER-63; GLN-249; LYS-358; CYS-401; TRP-453 AND PRO-527, CHARACTERIZATION OF VARIANTS LGMD1B LYS-208 DEL AND HIS-377, CHARACTERIZATION OF VARIANT FPLD2 LEU-482, CHARACTERIZATION OF VARIANT CMD1A CYS-541.
Ref.91
"Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy."
Cenni V., Sabatelli P., Mattioli E., Marmiroli S., Capanni C., Ognibene A., Squarzoni S., Maraldi N.M., Bonne G., Columbaro M., Merlini L., Lattanzi G.
J. Med. Genet. 42:214-220(2005) [PubMed] [Europe PMC] [Abstract]
Cenni V., Sabatelli P., Mattioli E., Marmiroli S., Capanni C., Ognibene A., Squarzoni S., Maraldi N.M., Bonne G., Columbaro M., Merlini L., Lattanzi G.
J. Med. Genet. 42:214-220(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LGMD1B HIS-377, VARIANTS EDMD2 ASN-63; PRO-140; GLN-190; GLN-249 AND PRO-527.
Ref.95
"Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy."
Rudnik-Schoeneborn S., Botzenhart E., Eggermann T., Senderek J., Schoser B.G.H., Schroeder R., Wehnert M., Wirth B., Zerres K.
Neurogenetics 8:137-142(2007) [PubMed] [Europe PMC] [Abstract]
Rudnik-Schoeneborn S., Botzenhart E., Eggermann T., Senderek J., Schoser B.G.H., Schroeder R., Wehnert M., Wirth B., Zerres K.
Neurogenetics 8:137-142(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LGMD1B HIS-377.
Ref.109
"Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population."
Fattahi Z., Kalhor Z., Fadaee M., Vazehan R., Parsimehr E., Abolhassani A., Beheshtian M., Zamani G., Nafissi S., Nilipour Y., Akbari M.R., Kahrizi K., Kariminejad A., Najmabadi H.
Clin. Genet. 91:386-402(2017) [PubMed] [Europe PMC] [Abstract]
Fattahi Z., Kalhor Z., Fadaee M., Vazehan R., Parsimehr E., Abolhassani A., Beheshtian M., Zamani G., Nafissi S., Nilipour Y., Akbari M.R., Kahrizi K., Kariminejad A., Najmabadi H.
Clin. Genet. 91:386-402(2017) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EDMD3 SER-24, VARIANT LGMD1B CYS-259.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant degenerative myopathy with age-related atrioventricular cardiac conduction disturbances, dilated cardiomyopathy, and the absence of early contractures. Characterized by slowly progressive skeletal muscle weakness of the hip and shoulder girdles. Muscle biopsy shows mild dystrophic changes.
See also OMIM:159001| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_034708 | 208 | Missing in LGMD1B; no obvious effect on nuclear morphology in cultured skin fibroblasts from heterozygous patients; no effect on protein level. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_076563 | 259 | Y → C in LGMD1B. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_016205 | 377 | R → H in LGMD1B; no obvious effect on nuclear morphology in cultured skin fibroblasts from heterozygous patients; no effect on protein level. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_039783 | 481 | Y → H in LGMD1B. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Charcot-Marie-Tooth disease 2B1 (CMT2B1)1 Publication
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.65"Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse."
De Sandre-Giovannoli A., Chaouch M., Kozlov S., Vallat J.-M., Tazir M., Kassouri N., Szepetowski P., Hammadouche T., Vandenberghe A., Stewart C.L., Grid D., Levy N.
Am. J. Hum. Genet. 70:726-736(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMT2B1 CYS-298, FUNCTION.
Ref.65
"Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse."
De Sandre-Giovannoli A., Chaouch M., Kozlov S., Vallat J.-M., Tazir M., Kassouri N., Szepetowski P., Hammadouche T., Vandenberghe A., Stewart C.L., Grid D., Levy N.
Am. J. Hum. Genet. 70:726-736(2002) [PubMed] [Europe PMC] [Abstract]
De Sandre-Giovannoli A., Chaouch M., Kozlov S., Vallat J.-M., Tazir M., Kassouri N., Szepetowski P., Hammadouche T., Vandenberghe A., Stewart C.L., Grid D., Levy N.
Am. J. Hum. Genet. 70:726-736(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMT2B1 CYS-298, FUNCTION.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced.
See also OMIM:605588| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_017661 | 298 | R → C in CMT2B1. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Hutchinson-Gilford progeria syndrome (HGPS)10 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.16"Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome."
Eriksson M., Brown W.T., Gordon L.B., Glynn M.W., Singer J., Scott L., Erdos M.R., Robbins C.M., Moses T.Y., Berglund P., Dutra A., Pak E., Durkin S., Csoka A.B., Boehnke M., Glover T.W., Collins F.S.
Nature 423:293-298(2003) [PubMed] [Europe PMC] [Abstract]Cited for: ALTERNATIVE SPLICING, INVOLVEMENT IN HGPS (ISOFORM 6), VARIANTS HGPS LYS-145 AND SER-608. - Ref.31"Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes."
Haque F., Mazzeo D., Patel J.T., Smallwood D.T., Ellis J.A., Shanahan C.M., Shackleton S.
J. Biol. Chem. 285:3487-3498(2010) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH SUN1, CHARACTERIZATION OF VARIANTS EDMD2 PRO-527 AND PRO-530, CHARACTERIZATION OF VARIANT HGPS SER-608. - Ref.36"Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24."
Barrowman J., Hamblet C., Kane M.S., Michaelis S.
PLoS ONE 7:E32120-E32120(2012) [PubMed] [Europe PMC] [Abstract]Cited for: MUTAGENESIS OF ARG-644; LEU-647; LEU-648; ASN-650 AND CYS-661, CHARACTERIZATION OF VARIANT HGPS CYS-644. - Ref.37"LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset."
Kane M.S., Lindsay M.E., Judge D.P., Barrowman J., Ap Rhys C., Simonson L., Dietz H.C., Michaelis S.
Am. J. Med. Genet. A 161:1599-1611(2013) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN HGPS, VARIANT HGPS GLY-300, CHARACTERIZATION OF VARIANT HGPS GLY-300. - Ref.76"LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)."
Cao H., Hegele R.A.
J. Hum. Genet. 48:271-274(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS HGPS CYS-471; CYS-527 AND SER-608. - Ref.79"LMNA mutations in atypical Werner's syndrome."
Chen L., Lee L., Kudlow B.A., Dos Santos H.G., Sletvold O., Shafeghati Y., Botha E.G., Garg A., Hanson N.B., Martin G.M., Mian I.S., Kennedy B.K., Oshima J.
Lancet 362:440-445(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMDHH PRO-57, VARIANT HGPS ARG-140, FUNCTION. - Ref.84"Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes."
Csoka A.B., Cao H., Sammak P.J., Constantinescu D., Schatten G.P., Hegele R.A.
J. Med. Genet. 41:304-308(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HGPS CYS-644, VARIANTS ILE-10 AND VAL-578. - Ref.85"Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome."
Plasilova M., Chattopadhyay C., Pal P., Schaub N.A., Buechner S.A., Mueller H., Miny P., Ghosh A., Heinimann K.
J. Med. Genet. 41:609-614(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HGPS ASN-542. - Ref.88"p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria."
Kirschner J., Brune T., Wehnert M., Denecke J., Wasner C., Feuer A., Marquardt T., Ketelsen U.-P., Wieacker P., Boennemann C.G., Korinthenberg R.
Ann. Neurol. 57:148-151(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HGPS PHE-143. - Ref.103"LMNA mutation in progeroid syndrome in association with strokes."
Gonzalez-Quereda L., Delgadillo V., Juan-Mateu J., Verdura E., Rodriguez M.J., Baiget M., Pineda M., Gallano P.
Eur. J. Med. Genet. 54:E576-E579(2011) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT HGPS LYS-138.
Ref.16
"Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome."
Eriksson M., Brown W.T., Gordon L.B., Glynn M.W., Singer J., Scott L., Erdos M.R., Robbins C.M., Moses T.Y., Berglund P., Dutra A., Pak E., Durkin S., Csoka A.B., Boehnke M., Glover T.W., Collins F.S.
Nature 423:293-298(2003) [PubMed] [Europe PMC] [Abstract]
Eriksson M., Brown W.T., Gordon L.B., Glynn M.W., Singer J., Scott L., Erdos M.R., Robbins C.M., Moses T.Y., Berglund P., Dutra A., Pak E., Durkin S., Csoka A.B., Boehnke M., Glover T.W., Collins F.S.
Nature 423:293-298(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: ALTERNATIVE SPLICING, INVOLVEMENT IN HGPS (ISOFORM 6), VARIANTS HGPS LYS-145 AND SER-608.
Ref.31
"Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes."
Haque F., Mazzeo D., Patel J.T., Smallwood D.T., Ellis J.A., Shanahan C.M., Shackleton S.
J. Biol. Chem. 285:3487-3498(2010) [PubMed] [Europe PMC] [Abstract]
Haque F., Mazzeo D., Patel J.T., Smallwood D.T., Ellis J.A., Shanahan C.M., Shackleton S.
J. Biol. Chem. 285:3487-3498(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH SUN1, CHARACTERIZATION OF VARIANTS EDMD2 PRO-527 AND PRO-530, CHARACTERIZATION OF VARIANT HGPS SER-608.
Ref.36
"Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24."
Barrowman J., Hamblet C., Kane M.S., Michaelis S.
PLoS ONE 7:E32120-E32120(2012) [PubMed] [Europe PMC] [Abstract]
Barrowman J., Hamblet C., Kane M.S., Michaelis S.
PLoS ONE 7:E32120-E32120(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: MUTAGENESIS OF ARG-644; LEU-647; LEU-648; ASN-650 AND CYS-661, CHARACTERIZATION OF VARIANT HGPS CYS-644.
Ref.37
"LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset."
Kane M.S., Lindsay M.E., Judge D.P., Barrowman J., Ap Rhys C., Simonson L., Dietz H.C., Michaelis S.
Am. J. Med. Genet. A 161:1599-1611(2013) [PubMed] [Europe PMC] [Abstract]
Kane M.S., Lindsay M.E., Judge D.P., Barrowman J., Ap Rhys C., Simonson L., Dietz H.C., Michaelis S.
Am. J. Med. Genet. A 161:1599-1611(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN HGPS, VARIANT HGPS GLY-300, CHARACTERIZATION OF VARIANT HGPS GLY-300.
Ref.76
"LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)."
Cao H., Hegele R.A.
J. Hum. Genet. 48:271-274(2003) [PubMed] [Europe PMC] [Abstract]
Cao H., Hegele R.A.
J. Hum. Genet. 48:271-274(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HGPS CYS-471; CYS-527 AND SER-608.
Ref.79
"LMNA mutations in atypical Werner's syndrome."
Chen L., Lee L., Kudlow B.A., Dos Santos H.G., Sletvold O., Shafeghati Y., Botha E.G., Garg A., Hanson N.B., Martin G.M., Mian I.S., Kennedy B.K., Oshima J.
Lancet 362:440-445(2003) [PubMed] [Europe PMC] [Abstract]
Chen L., Lee L., Kudlow B.A., Dos Santos H.G., Sletvold O., Shafeghati Y., Botha E.G., Garg A., Hanson N.B., Martin G.M., Mian I.S., Kennedy B.K., Oshima J.
Lancet 362:440-445(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMDHH PRO-57, VARIANT HGPS ARG-140, FUNCTION.
Ref.84
"Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes."
Csoka A.B., Cao H., Sammak P.J., Constantinescu D., Schatten G.P., Hegele R.A.
J. Med. Genet. 41:304-308(2004) [PubMed] [Europe PMC] [Abstract]
Csoka A.B., Cao H., Sammak P.J., Constantinescu D., Schatten G.P., Hegele R.A.
J. Med. Genet. 41:304-308(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HGPS CYS-644, VARIANTS ILE-10 AND VAL-578.
Ref.85
"Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome."
Plasilova M., Chattopadhyay C., Pal P., Schaub N.A., Buechner S.A., Mueller H., Miny P., Ghosh A., Heinimann K.
J. Med. Genet. 41:609-614(2004) [PubMed] [Europe PMC] [Abstract]
Plasilova M., Chattopadhyay C., Pal P., Schaub N.A., Buechner S.A., Mueller H., Miny P., Ghosh A., Heinimann K.
J. Med. Genet. 41:609-614(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HGPS ASN-542.
Ref.88
"p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria."
Kirschner J., Brune T., Wehnert M., Denecke J., Wasner C., Feuer A., Marquardt T., Ketelsen U.-P., Wieacker P., Boennemann C.G., Korinthenberg R.
Ann. Neurol. 57:148-151(2005) [PubMed] [Europe PMC] [Abstract]
Kirschner J., Brune T., Wehnert M., Denecke J., Wasner C., Feuer A., Marquardt T., Ketelsen U.-P., Wieacker P., Boennemann C.G., Korinthenberg R.
Ann. Neurol. 57:148-151(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HGPS PHE-143.
Ref.103
"LMNA mutation in progeroid syndrome in association with strokes."
Gonzalez-Quereda L., Delgadillo V., Juan-Mateu J., Verdura E., Rodriguez M.J., Baiget M., Pineda M., Gallano P.
Eur. J. Med. Genet. 54:E576-E579(2011) [PubMed] [Europe PMC] [Abstract]
Gonzalez-Quereda L., Delgadillo V., Juan-Mateu J., Verdura E., Rodriguez M.J., Baiget M., Pineda M., Gallano P.
Eur. J. Med. Genet. 54:E576-E579(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HGPS LYS-138.
The disease is caused by mutations affecting the gene represented in this entry. HGPS is caused by the toxic accumulation of a truncated form of lamin-A/C. This mutant protein, called progerin (isoform 6), acts to deregulate mitosis and DNA damage signaling, leading to premature cell death and senescence. The mutant form is mainly generated by a silent or missense mutation at codon 608 of prelamin A that causes activation of a cryptic splice donor site, resulting in production of isoform 6 with a deletion of 50 amino acids near the C terminus. Progerin lacks the conserved ZMPSTE24/FACE1 cleavage site and therefore remains permanently farnesylated. Thus, although it can enter the nucleus and associate with the nuclear envelope, it cannot incorporate normally into the nuclear lamina (PubMed:12714972).1 Publication
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.16"Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome."
Eriksson M., Brown W.T., Gordon L.B., Glynn M.W., Singer J., Scott L., Erdos M.R., Robbins C.M., Moses T.Y., Berglund P., Dutra A., Pak E., Durkin S., Csoka A.B., Boehnke M., Glover T.W., Collins F.S.
Nature 423:293-298(2003) [PubMed] [Europe PMC] [Abstract]Cited for: ALTERNATIVE SPLICING, INVOLVEMENT IN HGPS (ISOFORM 6), VARIANTS HGPS LYS-145 AND SER-608.
Disease descriptionRare genetic disorder characterized by features reminiscent of marked premature aging.
See also OMIM:176670| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070175 | 138 | E → K in HGPS; might be associated with early and severe strokes. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_017658 | 140 | L → R in HGPS; phenotype originally designated as atypical Werner syndrome. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_034707 | 143 | S → F in HGPS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_017659 | 145 | E → K in HGPS; atypical. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070178 | 300 | D → G in HGPS; atypical form with late onset; abnormal nuclear morphology with single or multple blebs, lobulation and occasional ringed or donut shaped nuclei. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_017662 | 471 | R → C in HGPS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_017663 | 527 | R → C in HGPS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_034710 | 542 | K → N in HGPS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_017664 | 608 | G → S in HGPS; reduced binding to SUN1; may affect splicing by activating a cryptic splice donor site. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH)3 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.79"LMNA mutations in atypical Werner's syndrome."
Chen L., Lee L., Kudlow B.A., Dos Santos H.G., Sletvold O., Shafeghati Y., Botha E.G., Garg A., Hanson N.B., Martin G.M., Mian I.S., Kennedy B.K., Oshima J.
Lancet 362:440-445(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMDHH PRO-57, VARIANT HGPS ARG-140, FUNCTION. - Ref.93"Collagen expression in fibroblasts with a novel LMNA mutation."
Nguyen D., Leistritz D.F., Turner L., MacGregor D., Ohson K., Dancey P., Martin G.M., Oshima J.
Biochem. Biophys. Res. Commun. 352:603-608(2007) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMDHH ARG-59. - Ref.99"Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation."
McPherson E., Turner L., Zador I., Reynolds K., Macgregor D., Giampietro P.F.
Am. J. Med. Genet. A 149:567-572(2009) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT CMDHH ARG-59.
Ref.79
"LMNA mutations in atypical Werner's syndrome."
Chen L., Lee L., Kudlow B.A., Dos Santos H.G., Sletvold O., Shafeghati Y., Botha E.G., Garg A., Hanson N.B., Martin G.M., Mian I.S., Kennedy B.K., Oshima J.
Lancet 362:440-445(2003) [PubMed] [Europe PMC] [Abstract]
Chen L., Lee L., Kudlow B.A., Dos Santos H.G., Sletvold O., Shafeghati Y., Botha E.G., Garg A., Hanson N.B., Martin G.M., Mian I.S., Kennedy B.K., Oshima J.
Lancet 362:440-445(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMDHH PRO-57, VARIANT HGPS ARG-140, FUNCTION.
Ref.93
"Collagen expression in fibroblasts with a novel LMNA mutation."
Nguyen D., Leistritz D.F., Turner L., MacGregor D., Ohson K., Dancey P., Martin G.M., Oshima J.
Biochem. Biophys. Res. Commun. 352:603-608(2007) [PubMed] [Europe PMC] [Abstract]
Nguyen D., Leistritz D.F., Turner L., MacGregor D., Ohson K., Dancey P., Martin G.M., Oshima J.
Biochem. Biophys. Res. Commun. 352:603-608(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMDHH ARG-59.
Ref.99
"Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation."
McPherson E., Turner L., Zador I., Reynolds K., Macgregor D., Giampietro P.F.
Am. J. Med. Genet. A 149:567-572(2009) [PubMed] [Europe PMC] [Abstract]
McPherson E., Turner L., Zador I., Reynolds K., Macgregor D., Giampietro P.F.
Am. J. Med. Genet. A 149:567-572(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMDHH ARG-59.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by the association of genital anomalies, hypergonadotropic hypogonadism and dilated cardiomyopathy. Patients can present other variable clinical manifestations including mental retardation, skeletal anomalies, scleroderma-like skin, graying and thinning of hair, osteoporosis. Dilated cardiomyopathy is characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia.
See also OMIM:212112| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_017656 | 57 | A → P in CMDHH; phenotype originally designated as atypical Werner syndrome. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064055 | 59 | L → R in CMDHH. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Mandibuloacral dysplasia with type A lipodystrophy (MADA)3 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.66"Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C."
Novelli G., Muchir A., Sangiuolo F., Helbling-Leclerc A., D'Apice M.R., Massart C., Capon F., Sbraccia P., Federici M., Lauro R., Tudisco C., Pallotta R., Scarano G., Dallapiccola B., Merlini L., Bonne G.
Am. J. Hum. Genet. 71:426-431(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MADA HIS-527, FUNCTION. - Ref.90"A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia."
Garg A., Cogulu O., Ozkinay F., Onay H., Agarwal A.K.
J. Clin. Endocrinol. Metab. 90:5259-5264(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MADA VAL-529. - Ref.92"A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features."
Van Esch H., Agarwal A.K., Debeer P., Fryns J.-P., Garg A.
J. Clin. Endocrinol. Metab. 91:517-521(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MADA LEU-573.
Ref.66
"Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C."
Novelli G., Muchir A., Sangiuolo F., Helbling-Leclerc A., D'Apice M.R., Massart C., Capon F., Sbraccia P., Federici M., Lauro R., Tudisco C., Pallotta R., Scarano G., Dallapiccola B., Merlini L., Bonne G.
Am. J. Hum. Genet. 71:426-431(2002) [PubMed] [Europe PMC] [Abstract]
Novelli G., Muchir A., Sangiuolo F., Helbling-Leclerc A., D'Apice M.R., Massart C., Capon F., Sbraccia P., Federici M., Lauro R., Tudisco C., Pallotta R., Scarano G., Dallapiccola B., Merlini L., Bonne G.
Am. J. Hum. Genet. 71:426-431(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MADA HIS-527, FUNCTION.
Ref.90
"A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia."
Garg A., Cogulu O., Ozkinay F., Onay H., Agarwal A.K.
J. Clin. Endocrinol. Metab. 90:5259-5264(2005) [PubMed] [Europe PMC] [Abstract]
Garg A., Cogulu O., Ozkinay F., Onay H., Agarwal A.K.
J. Clin. Endocrinol. Metab. 90:5259-5264(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MADA VAL-529.
Ref.92
"A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features."
Van Esch H., Agarwal A.K., Debeer P., Fryns J.-P., Garg A.
J. Clin. Endocrinol. Metab. 91:517-521(2006) [PubMed] [Europe PMC] [Abstract]
Van Esch H., Agarwal A.K., Debeer P., Fryns J.-P., Garg A.
J. Clin. Endocrinol. Metab. 91:517-521(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MADA LEU-573.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss of subcutaneous fat from the extremities. Adipose tissue in the face, neck and trunk is normal or increased.
See also OMIM:248370| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_018727 | 527 | R → H in MADA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_034709 | 529 | A → V in MADA. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Lethal tight skin contracture syndrome (LTSCS)1 Publication
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.83"Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy."
Navarro C.L., De Sandre-Giovannoli A., Bernard R., Boccaccio I., Boyer A., Genevieve D., Hadj-Rabia S., Gaudy-Marqueste C., Smitt H.S., Vabres P., Faivre L., Verloes A., Van Essen T., Flori E., Hennekam R., Beemer F.A., Laurent N., Le Merrer M., Cau P., Levy N.
Hum. Mol. Genet. 13:2493-2503(2004) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN LTSCS, FUNCTION.
Ref.83
"Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy."
Navarro C.L., De Sandre-Giovannoli A., Bernard R., Boccaccio I., Boyer A., Genevieve D., Hadj-Rabia S., Gaudy-Marqueste C., Smitt H.S., Vabres P., Faivre L., Verloes A., Van Essen T., Flori E., Hennekam R., Beemer F.A., Laurent N., Le Merrer M., Cau P., Levy N.
Hum. Mol. Genet. 13:2493-2503(2004) [PubMed] [Europe PMC] [Abstract]
Navarro C.L., De Sandre-Giovannoli A., Bernard R., Boccaccio I., Boyer A., Genevieve D., Hadj-Rabia S., Gaudy-Marqueste C., Smitt H.S., Vabres P., Faivre L., Verloes A., Van Essen T., Flori E., Hennekam R., Beemer F.A., Laurent N., Le Merrer M., Cau P., Levy N.
Hum. Mol. Genet. 13:2493-2503(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN LTSCS, FUNCTION.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. The overall prevalence of consanguineous cases suggested an autosomal recessive inheritance.
See also OMIM:275210Heart-hand syndrome Slovenian type (HHS-Slovenian)1 Publication
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.98"Heart-hand syndrome of Slovenian type: a new kind of laminopathy."
Renou L., Stora S., Yaou R.B., Volk M., Sinkovec M., Demay L., Richard P., Peterlin B., Bonne G.
J. Med. Genet. 45:666-671(2008) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN HHS-SLOVENIAN, FUNCTION.
Ref.98
"Heart-hand syndrome of Slovenian type: a new kind of laminopathy."
Renou L., Stora S., Yaou R.B., Volk M., Sinkovec M., Demay L., Richard P., Peterlin B., Bonne G.
J. Med. Genet. 45:666-671(2008) [PubMed] [Europe PMC] [Abstract]
Renou L., Stora S., Yaou R.B., Volk M., Sinkovec M., Demay L., Richard P., Peterlin B., Bonne G.
J. Med. Genet. 45:666-671(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN HHS-SLOVENIAN, FUNCTION.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionHeart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations.
See also OMIM:610140Muscular dystrophy congenital LMNA-related (MDCL)1 Publication
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.97"De novo LMNA mutations cause a new form of congenital muscular dystrophy."
Quijano-Roy S., Mbieleu B., Bonnemann C.G., Jeannet P.Y., Colomer J., Clarke N.F., Cuisset J.M., Roper H., De Meirleir L., D'Amico A., Ben Yaou R., Nascimento A., Barois A., Demay L., Bertini E., Ferreiro A., Sewry C.A., Romero N.B. , Ryan M., Muntoni F., Guicheney P., Richard P., Bonne G., Estournet B.
Ann. Neurol. 64:177-186(2008) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MDCL SER-39; PRO-50; TRP-249; PRO-302; LYS-358; SER-380; PRO-453; PRO-455 AND ASP-456.
Ref.97
"De novo LMNA mutations cause a new form of congenital muscular dystrophy."
Quijano-Roy S., Mbieleu B., Bonnemann C.G., Jeannet P.Y., Colomer J., Clarke N.F., Cuisset J.M., Roper H., De Meirleir L., D'Amico A., Ben Yaou R., Nascimento A., Barois A., Demay L., Bertini E., Ferreiro A., Sewry C.A., Romero N.B. , Ryan M., Muntoni F., Guicheney P., Richard P., Bonne G., Estournet B.
Ann. Neurol. 64:177-186(2008) [PubMed] [Europe PMC] [Abstract]
Quijano-Roy S., Mbieleu B., Bonnemann C.G., Jeannet P.Y., Colomer J., Clarke N.F., Cuisset J.M., Roper H., De Meirleir L., D'Amico A., Ben Yaou R., Nascimento A., Barois A., Demay L., Bertini E., Ferreiro A., Sewry C.A., Romero N.B. , Ryan M., Muntoni F., Guicheney P., Richard P., Bonne G., Estournet B.
Ann. Neurol. 64:177-186(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MDCL SER-39; PRO-50; TRP-249; PRO-302; LYS-358; SER-380; PRO-453; PRO-455 AND ASP-456.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures.
See also OMIM:613205| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063590 | 302 | L → P in MDCL. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063591 | 380 | L → S in MDCL. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063592 | 453 | R → P in MDCL. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063593 | 455 | R → P in MDCL. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063594 | 456 | N → D in MDCL. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Defects in LMNA may cause a late-onset cardiocutaneous progeria syndrome characterized by cutaneous manifestations of aging appearing in the third decade of life, cardiac valve calcification and dysfunction, prominent atherosclerosis, and cardiomyopathy, leading to death on average in the fourth decade.1 Publication
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.37"LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset."
Kane M.S., Lindsay M.E., Judge D.P., Barrowman J., Ap Rhys C., Simonson L., Dietz H.C., Michaelis S.
Am. J. Med. Genet. A 161:1599-1611(2013) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN HGPS, VARIANT HGPS GLY-300, CHARACTERIZATION OF VARIANT HGPS GLY-300.
Mutagenesis
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 201 | K → L: Decreased sumoylation; aberrant localization with decreased nuclear rim staining and formation of intranuclear foci; associated with increased cell death. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 644 | R → A: Does not affect tail cleavage. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 647 | L → R: Completely inhibits tail cleavage. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 648 | L → A: Completely inhibits tail cleavage. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 650 | N → A: Partially inhibits tail cleavage. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi | 661 | C → S: Loss of interaction with NARF. Abolishes farnesylation. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseasei
Cardiomyopathy, Charcot-Marie-Tooth disease, Congenital muscular dystrophy, Disease mutation, Emery-Dreifuss muscular dystrophy, Limb-girdle muscular dystrophy, Neurodegeneration, NeuropathyOrganism-specific databases
DisGeNET More...DisGeNETi | 4000 |
GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. More...GeneReviewsi | LMNA |
MalaCards human disease database More...MalaCardsi | LMNA |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 115200 phenotype 151660 phenotype 159001 phenotype 176670 phenotype 181350 phenotype 212112 phenotype 248370 phenotype 275210 phenotype 605588 phenotype 610140 phenotype 613205 phenotype 616516 phenotype |
Open Targets More...OpenTargetsi | ENSG00000160789 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 79474 Atypical Werner syndrome 280365 Autosomal codominant severe lipodystrophic laminopathy 98853 Autosomal dominant Emery-Dreifuss muscular dystrophy 264 Autosomal dominant limb-girdle muscular dystrophy type 1B 98855 Autosomal recessive Emery-Dreifuss muscular dystrophy 98856 Charcot-Marie-Tooth disease type 2B1 157973 Congenital muscular dystrophy due to LMNA mutation 2229 Dilated cardiomyopathy - hypergonadotropic hypogonadism 300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation 293899 Familial isolated arrhythmogenic ventricular dysplasia, biventricular form 293888 Familial isolated arrhythmogenic ventricular dysplasia, left dominant form 293910 Familial isolated arrhythmogenic ventricular dysplasia, right dominant form 2348 Familial partial lipodystrophy, Dunnigan type 79084 Familial partial lipodystrophy, Kobberling type 168796 Heart-hand syndrome, Slovenian type 740 Hutchinson-Gilford progeria syndrome 137871 Laminopathy type Decaudain-Vigouroux 54260 Left ventricular noncompaction 1662 Lethal restrictive dermopathy 363618 LMNA-related cardiocutaneous progeria syndrome 90153 Mandibuloacral dysplasia with type A lipodystrophy 99706 Progeria-associated arthropathy |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA231 |
Chemistry databases
ChEMBL database of bioactive drug-like small molecules More...ChEMBLi | CHEMBL1293235 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | LMNA |
Domain mapping of disease mutations (DMDM) More...DMDMi | 125962 |
<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000398835 | 1 – 661 | Prelamin-A/CAdd BLAST | 661 | |
| <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000063810 | 1 – 646 | Lamin-A/CAdd BLAST | 646 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_0000398836 | 647 – 661 | Removed in Lamin-A/C formAdd BLAST | 15 | |
| <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_0000403442 | 662 – 664 | Removed in Prelamin-A/C form and in Lamin-A/C form | 3 |
Amino acid modifications
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 1 | N-acetylmethionineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 3 | PhosphothreonineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 12 | PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 18 | PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 19 | PhosphothreonineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei
| 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 22 | PhosphoserineCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 32 | N6-acetyllysine; alternateBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | 1 | |