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Entry version 243 (29 Sep 2021)
Sequence version 4 (10 Apr 2019)
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Protein

Fibrillin-1

Gene

FBN1

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>

<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

Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:1860873, PubMed:15062093).

Fibrillin-1-containing microfibrils provide long-term force bearing structural support (PubMed:27026396).

In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin (PubMed:27026396).

In addition, microfibrils can occur as elastin-independent networks in tissues such as the ciliary zonule, tendon, cornea and glomerulus where they provide tensile strength and have anchoring roles (PubMed:27026396).

Fibrillin-1 also plays a key role in tissue homeostasis through specific interactions with growth factors, such as the bone morphogenetic proteins (BMPs), growth and differentiation factors (GDFs) and latent transforming growth factor-beta-binding proteins (LTBPs), cell-surface integrins and other extracellular matrix protein and proteoglycan components (PubMed:27026396).

Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity).

Negatively regulates osteoclastogenesis by binding and sequestering an osteoclast differentiation and activation factor TNFSF11 (PubMed:24039232).

This leads to disruption of TNFSF11-induced Ca2+ signaling and impairment of TNFSF11-mediated nuclear translocation and activation of transcription factor NFATC1 which regulates genes important for osteoclast differentiation and function (PubMed:24039232).

Mediates cell adhesion via its binding to cell surface receptors integrins ITGAV:ITGB3 and ITGA5:ITGB1 (PubMed:12807887, PubMed:17158881).

Binds heparin and this interaction has an important role in the assembly of microfibrils (PubMed:11461921).

1 PublicationBy similarity6 Publications

Adipokine secreted by white adipose tissue that plays an important regulatory role in the glucose metabolism of liver, muscle and pancreas (PubMed:27087445, PubMed:30853600).

Hormone that targets the liver in response to fasting to increase plasma glucose levels (PubMed:27087445).

Binds the olfactory receptor OR4M1 at the surface of hepatocytes and promotes hepatocyte glucose release by activating the protein kinase A activity in the liver, resulting in rapid glucose release into the circulation (PubMed:27087445, PubMed:31230984).

May act as a regulator of adaptive thermogenesis by inhibiting browning and energy consumption, while increasing lipid deposition in white adipose tissue (By similarity).

Also acts as an orexigenic hormone that increases appetite: crosses the blood brain barrier and exerts effects on the hypothalamus (By similarity).

In the arcuate nucleus of the hypothalamus, asprosin directly activates orexigenic AgRP neurons and indirectly inhibits anorexigenic POMC neurons, resulting in appetite stimulation (By similarity).

Activates orexigenic AgRP neurons via binding to the olfactory receptor OR4M1 (By similarity).

May also play a role in sperm motility in testis via interaction with OR4M1 receptor (By similarity).

By similarity3 Publications

Miscellaneous

Was named after the Greek word for white, because of the reduction in subcutaneous white adipose tissue that is displayed by asprosin-deficient patients.1 Publication

<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

GO - Biological processi

<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>Keywordsi

Molecular functionHeparin-binding, Hormone
LigandCalcium

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
P35555

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1474228, Degradation of the extracellular matrix
R-HSA-1566948, Elastic fibre formation
R-HSA-2129379, Molecules associated with elastic fibres
R-HSA-216083, Integrin cell surface interactions
R-HSA-381426, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275, Post-translational protein phosphorylation

SIGNOR Signaling Network Open Resource

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SIGNORi
P35555

<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:
Fibrillin-11 Publication
Cleaved into the following chain:
Asprosin1 Publication
<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:FBN1Imported
Synonyms:FBN
<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>OrganismiHomo 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 identifieri9606 [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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:3603, FBN1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
134797, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P35555

Eukaryotic Pathogen, Vector and Host Database Resources

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VEuPathDBi
HostDB:ENSG00000166147

<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

Keywords - Cellular componenti

Extracellular matrix, Secreted

<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

Marfan syndrome (MFS)45 Publications
The disease is caused by variants affecting the gene represented in this entry. The majority of the more than a thousand mutations in FBN1 currently known are point mutations, the rest are frameshifts and splice site mutations. Marfan syndrome has been suggested in at least 2 historical figures, Abraham Lincoln and Paganini.
Disease descriptionA hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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_02385920Y → C in MFS. 1 PublicationCorresponds to variant dbSNP:rs201309310EnsemblClinVar.1
Natural variantiVAR_07598555G → E in MFS. 1 Publication1
Natural variantiVAR_07598657N → D in MFS. 1 Publication1
Natural variantiVAR_01796762R → C in MFS; also in a patient with ectopia lentis and retinal detachment. 1 PublicationCorresponds to variant dbSNP:rs25403EnsemblClinVar.1
Natural variantiVAR_06598180C → G in MFS. 1 PublicationCorresponds to variant dbSNP:rs111764111EnsemblClinVar.1
Natural variantiVAR_01796889C → F in MFS. 1 PublicationCorresponds to variant dbSNP:rs112660651Ensembl.1
Natural variantiVAR_075989100C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs397515782EnsemblClinVar.1
Natural variantiVAR_002276111C → R in MFS. 1 Publication1
Natural variantiVAR_017969114R → C in MFS. 1 Publication1
Natural variantiVAR_002277122R → C in MFS. 4 PublicationsCorresponds to variant dbSNP:rs137854467Ensembl.1
Natural variantiVAR_023860123C → Y in MFS. 2 PublicationsCorresponds to variant dbSNP:rs397515794EnsemblClinVar.1
Natural variantiVAR_002278129C → Y in MFS; severe neonatal. 2 PublicationsCorresponds to variant dbSNP:rs1566935517EnsemblClinVar.1
Natural variantiVAR_075991136C → S in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555405041EnsemblClinVar.1
Natural variantiVAR_017971154C → S in MFS. 1 PublicationCorresponds to variant dbSNP:rs1057521103EnsemblClinVar.1
Natural variantiVAR_002279166C → F in MFS. 1 Publication1
Natural variantiVAR_002280166C → S in MFS. 1 PublicationCorresponds to variants dbSNP:rs397515818 and dbSNP:rs363852EnsemblClinVarEnsembl.1
Natural variantiVAR_023861177C → R in MFS. 1 PublicationCorresponds to variant dbSNP:rs363853EnsemblClinVar.1
Natural variantiVAR_075994177C → S in MFS. 1 Publication1
Natural variantiVAR_075995177C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs113695103EnsemblClinVar.1
Natural variantiVAR_075996214G → S in MFS. 2 PublicationsCorresponds to variant dbSNP:rs794728162Ensembl.1
Natural variantiVAR_002281217W → G in MFS. 2 PublicationsCorresponds to variant dbSNP:rs193922224EnsemblClinVar.1
Natural variantiVAR_075998219H → Q in MFS. 1 PublicationCorresponds to variant dbSNP:rs774754863Ensembl.1
Natural variantiVAR_023862224C → R in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555401676EnsemblClinVar.1
Natural variantiVAR_017972240R → C in MFS and ECTOL1. 4 PublicationsCorresponds to variant dbSNP:rs137854480EnsemblClinVar.1
Natural variantiVAR_075999248 – 2871Missing in MFS. 1 PublicationAdd BLAST2624
Natural variantiVAR_076000348 – 2871Missing in MFS. 1 PublicationAdd BLAST2524
Natural variantiVAR_076001351 – 2871Missing in MFS. 1 PublicationAdd BLAST2521
Natural variantiVAR_076003365C → R in MFS. 1 Publication1
Natural variantiVAR_076005366 – 2871Missing in MFS. 1 PublicationAdd BLAST2506
Natural variantiVAR_017973366W → C in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555400595EnsemblClinVar.1
Natural variantiVAR_076006429 – 2871Missing in MFS. 2 PublicationsAdd BLAST2443
Natural variantiVAR_023863439R → G in MFS. 1 Publication1
Natural variantiVAR_076007449V → I in MFS. 1 PublicationCorresponds to variant dbSNP:rs139058991EnsemblClinVar.1
Natural variantiVAR_076008474C → W in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555400378EnsemblClinVar.1
Natural variantiVAR_002282476C → G in MFS. 1 PublicationCorresponds to variant dbSNP:rs794728326EnsemblClinVar.1
Natural variantiVAR_076009488C → R in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555400373EnsemblClinVar.1
Natural variantiVAR_002283490D → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555400371EnsemblClinVar.1
Natural variantiVAR_065982499C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs587782944EnsemblClinVar.1
Natural variantiVAR_010776504C → F in MFS. 1 PublicationCorresponds to variant dbSNP:rs1156747241Ensembl.1
Natural variantiVAR_023864507Missing in MFS. 1 Publication1
Natural variantiVAR_080327515 – 516CR → WG in MFS. 1 Publication2
Natural variantiVAR_023865541C → Y in MFS. 1 Publication1
Natural variantiVAR_002284545R → C in MFS and ECTOL1. 3 PublicationsCorresponds to variant dbSNP:rs730880099EnsemblClinVar.1
Natural variantiVAR_076011546C → W in MFS. 1 Publication1
Natural variantiVAR_002285548N → I in MFS. 1 PublicationCorresponds to variant dbSNP:rs137854462EnsemblClinVar.1
Natural variantiVAR_017974560G → S in MFS. 1 PublicationCorresponds to variant dbSNP:rs1064794283EnsemblClinVar.1
Natural variantiVAR_076012565 – 2871Missing in MFS. 1 PublicationAdd BLAST2307
Natural variantiVAR_017975570C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555400049EnsemblClinVar.1
Natural variantiVAR_076013576C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555399974EnsemblClinVar.1
Natural variantiVAR_076014582C → R in MFS. 1 Publication1
Natural variantiVAR_002286587C → Y in MFS. 2 PublicationsCorresponds to variant dbSNP:rs1555399963EnsemblClinVar.1
Natural variantiVAR_017976592G → D in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555399959EnsemblClinVar.1
Natural variantiVAR_017977596C → Y in MFS. 1 Publication1
Natural variantiVAR_017978598C → W in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555399954EnsemblClinVar.1
Natural variantiVAR_065983611C → R in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555399944EnsemblClinVar.1
Natural variantiVAR_065984617C → G in MFS. 1 PublicationCorresponds to variant dbSNP:rs1060501017EnsemblClinVar.1
Natural variantiVAR_076016623C → F in MFS. 1 PublicationCorresponds to variant dbSNP:rs1566914030EnsemblClinVar.1
Natural variantiVAR_002287627R → C in MFS; enhances proteolytic degradation. 5 PublicationsCorresponds to variant dbSNP:rs727503057EnsemblClinVar.1
Natural variantiVAR_023867629 – 633Missing in MFS. 1 Publication5
Natural variantiVAR_023868635Y → C in MFS. 2 PublicationsCorresponds to variant dbSNP:rs1555399816EnsemblClinVar.1
Natural variantiVAR_023869636R → I in MFS. 1 Publication1
Natural variantiVAR_017979652C → S in MFS. 1 Publication1
Natural variantiVAR_017980654D → N in MFS. 2 Publications1
Natural variantiVAR_002288661C → R in MFS. 1 Publication1
Natural variantiVAR_017982681S → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555399766EnsemblClinVar.1
Natural variantiVAR_017983683C → R in MFS. 1 Publication1
Natural variantiVAR_076020684C → Y in MFS. 1 Publication1
Natural variantiVAR_017984685C → W in MFS. 2 PublicationsCorresponds to variant dbSNP:rs140603EnsemblClinVar.1
Natural variantiVAR_065985685C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555399761EnsemblClinVar.1
Natural variantiVAR_076021699C → S in MFS. 1 Publication1
Natural variantiVAR_002289705A → T in MFS. 2 Publications1
Natural variantiVAR_002290711C → Y in MFS. 2 Publications1
Natural variantiVAR_076022721G → C in MFS. 1 Publication1
Natural variantiVAR_002291723D → A in MFS. 1 PublicationCorresponds to variant dbSNP:rs137854463EnsemblClinVar.1
Natural variantiVAR_017985723D → V in MFS. 1 Publication1
Natural variantiVAR_076023727C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555399381EnsemblClinVar.1
Natural variantiVAR_017986734C → F in MFS. 1 PublicationCorresponds to variant dbSNP:rs794728187EnsemblClinVar.1
Natural variantiVAR_002292746Y → C in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555399372EnsemblClinVar.1
Natural variantiVAR_017987748C → Y in MFS. 2 PublicationsCorresponds to variant dbSNP:rs1064794282EnsemblClinVar.1
Natural variantiVAR_002293750C → G in MFS; enhances proteolytic degradation. 2 Publications1
Natural variantiVAR_017988776C → G in MFS. 1 Publication1
Natural variantiVAR_017989776C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555399273EnsemblClinVar.1
Natural variantiVAR_017990781C → R in MFS. 2 PublicationsCorresponds to variant dbSNP:rs397515766EnsemblClinVar.1
Natural variantiVAR_023870781C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555399271EnsemblClinVar.1
Natural variantiVAR_065986790C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs193922188EnsemblClinVar.1
Natural variantiVAR_065987811C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555399210EnsemblClinVar.1
Natural variantiVAR_076025816C → R in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555399206EnsemblClinVar.1
Natural variantiVAR_017991816C → S in MFS. 1 PublicationCorresponds to variant dbSNP:rs397515770EnsemblClinVar.1
Natural variantiVAR_076026828F → C in MFS. 1 Publication1
Natural variantiVAR_023871832C → Y in MFS. 2 PublicationsCorresponds to variant dbSNP:rs397515775EnsemblClinVar.1
Natural variantiVAR_065988853C → S in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555399165EnsemblClinVar.1
Natural variantiVAR_076027861 – 2871Missing in MFS. 2 PublicationsAdd BLAST2011
Natural variantiVAR_002294862C → R in MFS. 1 Publication1
Natural variantiVAR_076028880G → S in MFS. 3 PublicationsCorresponds to variant dbSNP:rs794728194Ensembl.1
Natural variantiVAR_076029882A → V in MFS and ECTOL1. 1 PublicationCorresponds to variant dbSNP:rs794728195Ensembl.1
Natural variantiVAR_076030884G → E in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555399149EnsemblClinVar.1
Natural variantiVAR_023872890C → G in MFS. 1 Publication1
Natural variantiVAR_017992890C → R in MFS. 1 Publication1
Natural variantiVAR_017993908C → R in MFS. 1 PublicationCorresponds to variant dbSNP:rs1060501021EnsemblClinVar.1
Natural variantiVAR_076031908C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs1057523406EnsemblClinVar.1
Natural variantiVAR_076032910D → H in MFS. 1 Publication1
Natural variantiVAR_017994913E → G in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555398995EnsemblClinVar.1
Natural variantiVAR_076033921 – 2871Missing in MFS. 1 PublicationAdd BLAST1951
Natural variantiVAR_017995921C → G in MFS. 1 Publication1
Natural variantiVAR_002295926C → R in MFS; enhances proteolytic degradation. 2 Publications1
Natural variantiVAR_065989926C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555398989EnsemblClinVar.1
Natural variantiVAR_076037974R → C in MFS. 1 PublicationCorresponds to variant dbSNP:rs397514558EnsemblClinVar.1
Natural variantiVAR_076038976R → H in MFS. 1 PublicationCorresponds to variant dbSNP:rs140954477EnsemblClinVar.1
Natural variantiVAR_002296984V → I in MFS. 1 PublicationCorresponds to variant dbSNP:rs747713929EnsemblClinVar.1
Natural variantiVAR_018319985G → E in MFS; atypical. 1 PublicationCorresponds to variant dbSNP:rs137854477EnsemblClinVar.1
Natural variantiVAR_017996985G → R in MFS. 2 PublicationsCorresponds to variant dbSNP:rs794728199EnsemblClinVar.1
Natural variantiVAR_076040994 – 2871Missing in MFS. 1 PublicationAdd BLAST1878
Natural variantiVAR_002297996C → R in MFS. 1 PublicationCorresponds to variant dbSNP:rs140592EnsemblClinVar.1
Natural variantiVAR_0760411008C → Y in MFS. 1 Publication1
Natural variantiVAR_0022981013G → R in MFS; severe neonatal. 4 PublicationsCorresponds to variant dbSNP:rs140593EnsemblClinVar.1
Natural variantiVAR_0022991023K → N in MFS; severe neonatal. 1 Publication1
Natural variantiVAR_0760441032C → Y in MFS; severe neonatal. 1 PublicationCorresponds to variant dbSNP:rs137854481EnsemblClinVar.1
Natural variantiVAR_0760451042G → S in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555398681EnsemblClinVar.1
Natural variantiVAR_0023001043K → R in MFS. 1 PublicationCorresponds to variant dbSNP:rs137854472EnsemblClinVar.1
Natural variantiVAR_0179971044C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs730880100EnsemblClinVar.1
Natural variantiVAR_0023011048I → T in MFS; severe neonatal. 2 PublicationsCorresponds to variant dbSNP:rs1555398673EnsemblClinVar.1
Natural variantiVAR_0023021048Missing in MFS. 1 Publication1
Natural variantiVAR_0023031053C → R in MFS. 1 Publication1
Natural variantiVAR_0023041055C → G in MFS; neonatal. 2 PublicationsCorresponds to variant dbSNP:rs1597564258Ensembl.1
Natural variantiVAR_0179981055C → W in MFS. 1 PublicationCorresponds to variant dbSNP:rs1060501040EnsemblClinVar.1
Natural variantiVAR_0179991055C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs397515786EnsemblClinVar.1
Natural variantiVAR_0238731058G → D in MFS. 1 PublicationCorresponds to variant dbSNP:rs794728202EnsemblClinVar.1
Natural variantiVAR_0023051058G → GC in MFS. 1 Publication1
Natural variantiVAR_0645031068C → G in MFS; neonatal form. 1 PublicationCorresponds to variant dbSNP:rs1293095681Ensembl.1
Natural variantiVAR_0023061072D → G in MFS. 1 Publication1
Natural variantiVAR_0023071073E → K in MFS; severe neonatal. 2 PublicationsCorresponds to variant dbSNP:rs137854478EnsemblClinVar.1
Natural variantiVAR_0023081074C → R in MFS; severe neonatal. 2 PublicationsCorresponds to variant dbSNP:rs137854465EnsemblClinVar.1
Natural variantiVAR_0760461074C → Y in MFS; severe neonatal. 1 PublicationCorresponds to variant dbSNP:rs1555398645EnsemblClinVar.1
Natural variantiVAR_0023091086C → W in MFS. 1 Publication1
Natural variantiVAR_0760481088N → I in MFS; severe neonatal. 1 Publication1
Natural variantiVAR_0659901090P → S in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555398633EnsemblClinVar.1
Natural variantiVAR_0180001101Y → C in MFS. 3 PublicationsCorresponds to variant dbSNP:rs1555398625EnsemblClinVar.1
Natural variantiVAR_0238741113D → V in MFS. 1 Publication1
Natural variantiVAR_0023101117C → G in MFS. 1 Publication1
Natural variantiVAR_0760491117C → R in MFS. 1 Publication1
Natural variantiVAR_0023111117C → Y in MFS. 2 PublicationsCorresponds to variant dbSNP:rs137854470EnsemblClinVar.1
Natural variantiVAR_0760501125 – 2871Missing in MFS. 2 PublicationsAdd BLAST1747
Natural variantiVAR_0023121127G → S in MFS; mild form. 1 PublicationCorresponds to variant dbSNP:rs137854468EnsemblClinVar.1
Natural variantiVAR_0107771129C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs137854482EnsemblClinVar.1
Natural variantiVAR_0760511130H → P in MFS. 1 Publication1
Natural variantiVAR_0760521136 – 2871Missing in MFS. 1 PublicationAdd BLAST1736
Natural variantiVAR_0023141137R → P in MFS. 2 PublicationsCorresponds to variant dbSNP:rs137854456EnsemblClinVar.1
Natural variantiVAR_0760531138C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs397515791EnsemblClinVar.1
Natural variantiVAR_0760541140 – 2871Missing in MFS. 1 PublicationAdd BLAST1732
Natural variantiVAR_0238751153C → S in MFS. 1 Publication1
Natural variantiVAR_0023161153C → Y in MFS; severe. 2 PublicationsCorresponds to variant dbSNP:rs140599EnsemblClinVar.1
Natural variantiVAR_0023171155D → N in MFS and ECTOL1. 2 PublicationsCorresponds to variant dbSNP:rs794728204EnsemblClinVar.1
Natural variantiVAR_0760551158E → G in MFS. 1 PublicationCorresponds to variant dbSNP:rs1597562926EnsemblClinVar.1
Natural variantiVAR_0023181170R → H in MFS. 3 PublicationsCorresponds to variant dbSNP:rs137854475EnsemblClinVar.1
Natural variantiVAR_0023191171C → W in MFS. 1 PublicationCorresponds to variant dbSNP:rs775417975EnsemblClinVar.1
Natural variantiVAR_0023201173N → K in MFS. 1 Publication1
Natural variantiVAR_0760561182C → W in MFS. 1 Publication1
Natural variantiVAR_0659911185G → D in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555398512EnsemblClinVar.1
Natural variantiVAR_0760571199D → A in MFS. 1 Publication1
Natural variantiVAR_0180021200E → G in MFS. 1 Publication1
Natural variantiVAR_0238761211Missing in MFS. 1 Publication1
Natural variantiVAR_0238771219Y → C in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555398394EnsemblClinVar.1
Natural variantiVAR_0760581223C → R in MFS; severe neonatal. 1 Publication1
Natural variantiVAR_0023211223C → Y in MFS; also found in a patient with Shprintzen-Goldberg craniosynostosis syndrome. 2 PublicationsCorresponds to variant dbSNP:rs137854469EnsemblClinVar.1
Natural variantiVAR_0023221242C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs137854471EnsemblClinVar.1
Natural variantiVAR_0760591249C → R in MFS. 1 Publication1
Natural variantiVAR_0023231249C → S in MFS. 1 PublicationCorresponds to variant dbSNP:rs137854458EnsemblClinVar.1
Natural variantiVAR_0107781261Y → C in MFS. 1 Publication1
Natural variantiVAR_0238781261Y → D in MFS. 1 Publication1
Natural variantiVAR_0183201265C → R in MFS. 1 PublicationCorresponds to variant dbSNP:rs137854474EnsemblClinVar.1
Natural variantiVAR_0760601265C → Y in MFS. 1 Publication1
Natural variantiVAR_0238791278C → S in MFS. 1 Publication1
Natural variantiVAR_0238801284C → G in MFS. 1 Publication1
Natural variantiVAR_0659921284C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555398173EnsemblClinVar.1
Natural variantiVAR_0760611307C → Y in MFS; severe neonatal. 1 Publication1
Natural variantiVAR_0760621320C → R in MFS. 1 PublicationCorresponds to variant dbSNP:rs1597558920EnsemblClinVar.1
Natural variantiVAR_0180031325E → Q in MFS. 1 Publication1
Natural variantiVAR_0760631326C → R in MFS; severe neonatal. 1 Publication1
Natural variantiVAR_0238811333C → S in MFS. 1 Publication1
Natural variantiVAR_0180041337A → P in MFS; neonatal. 1 PublicationCorresponds to variant dbSNP:rs753648789EnsemblClinVar.1
Natural variantiVAR_0180051339C → Y in MFS. 1 PublicationCorresponds to variant dbSNP:rs397515798EnsemblClinVar.1
Natural variantiVAR_0760641346F → L in MFS. 1 Publication1
Natural variantiVAR_0659931350C → F in MFS. 1 PublicationCorresponds to variant dbSNP:rs1555397718EnsemblClinVar.1
Natural variantiVAR_0180061366E → K in MFS. 2 PublicationsCorresponds to variant dbSNP:rs763449629EnsemblClinVar.1