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Protein

Myosin-7

Gene

MYH7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Muscle contraction.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi178 – 185ATP8

GO - Molecular functioni

  • actin-dependent ATPase activity Source: HGNC
  • ATPase activity Source: HGNC
  • ATP binding Source: UniProtKB-KW
  • microfilament motor activity Source: UniProtKB

GO - Biological processi

  • adult heart development Source: HGNC
  • ATP metabolic process Source: BHF-UCL
  • cardiac muscle contraction Source: BHF-UCL
  • cardiac muscle hypertrophy in response to stress Source: Ensembl
  • muscle contraction Source: HGNC
  • muscle filament sliding Source: HGNC
  • regulation of heart rate Source: HGNC
  • regulation of slow-twitch skeletal muscle fiber contraction Source: BHF-UCL
  • regulation of the force of heart contraction Source: BHF-UCL
  • regulation of the force of skeletal muscle contraction Source: BHF-UCL
  • skeletal muscle contraction Source: BHF-UCL
  • striated muscle contraction Source: BHF-UCL
  • transition between fast and slow fiber Source: Ensembl
  • ventricular cardiac muscle tissue morphogenesis Source: HGNC
Complete GO annotation...

Keywords - Molecular functioni

Motor protein, Muscle protein, Myosin

Keywords - Ligandi

Actin-binding, ATP-binding, Calmodulin-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000092054-MONOMER.
ReactomeiR-HSA-1445148. Translocation of GLUT4 to the plasma membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
Myosin-7
Alternative name(s):
Myosin heavy chain 7
Myosin heavy chain slow isoform
Short name:
MyHC-slow
Myosin heavy chain, cardiac muscle beta isoform
Short name:
MyHC-beta
Gene namesi
Name:MYH7
Synonyms:MYHCB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:7577. MYH7.

Subcellular locationi

GO - Cellular componenti

  • muscle myosin complex Source: UniProtKB
  • myosin complex Source: HGNC
  • myosin filament Source: BHF-UCL
  • sarcomere Source: BHF-UCL
  • stress fiber Source: Ensembl
  • Z disc Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Thick filament

Pathology & Biotechi

Involvement in diseasei

Cardiomyopathy, familial hypertrophic 1 (CMH1)55 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
See also OMIM:192600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00456626A → V in CMH1. 1 PublicationCorresponds to variant rs186964570dbSNPEnsembl.1
Natural variantiVAR_01984539V → M in CMH1. 1 PublicationCorresponds to variant rs376160714dbSNPEnsembl.1
Natural variantiVAR_00456759V → I in CMH1. Corresponds to variant rs771132107dbSNPEnsembl.1
Natural variantiVAR_042762115Y → H in CMH1. 1 PublicationCorresponds to variant rs397516183dbSNPEnsembl.1
Natural variantiVAR_020797124T → I in CMH1. 1 Publication1
Natural variantiVAR_042763143R → G in CMH1. 1 PublicationCorresponds to variant rs727503278dbSNPEnsembl.1
Natural variantiVAR_004568143R → Q in CMH1. 2 PublicationsCorresponds to variant rs397516209dbSNPEnsembl.1
Natural variantiVAR_029431143R → W in CMH1. 1 PublicationCorresponds to variant rs727503278dbSNPEnsembl.1
Natural variantiVAR_042764146K → N in CMH1. 2 PublicationsCorresponds to variant rs397516212dbSNPEnsembl.1
Natural variantiVAR_042765148S → I in CMH1. 1 PublicationCorresponds to variant rs772691929dbSNPEnsembl.1
Natural variantiVAR_020798162Y → C in CMH1. 1 Publication1
Natural variantiVAR_042766186V → L in CMH1. 1 PublicationCorresponds to variant rs786205906dbSNPEnsembl.1
Natural variantiVAR_020799187N → K in CMH1. 1 Publication1
Natural variantiVAR_019846188T → N in CMH1. 1 PublicationCorresponds to variant rs730880844dbSNPEnsembl.1
Natural variantiVAR_020800190R → T in CMH1. 2 Publications1
Natural variantiVAR_042767196A → T in CMH1. 1 Publication1
Natural variantiVAR_019847204R → H in CMH1. 1 PublicationCorresponds to variant rs397516260dbSNPEnsembl.1
Natural variantiVAR_042769207K → Q in CMH1. 1 PublicationCorresponds to variant rs727504273dbSNPEnsembl.1
Natural variantiVAR_042770211P → L in CMH1. 3 PublicationsCorresponds to variant rs727503277dbSNPEnsembl.1
Natural variantiVAR_020801222Q → K in CMH1. 1 Publication1
Natural variantiVAR_042771227L → V in CMH1. 1 Publication1
Natural variantiVAR_019848232N → S in CMH1. 1 Publication1
Natural variantiVAR_073876243R → H in CMH1 and CMD1S. 2 PublicationsCorresponds to variant rs267606910dbSNPEnsembl.1
Natural variantiVAR_020802244F → L in CMH1. 1 PublicationCorresponds to variant rs730880849dbSNPEnsembl.1
Natural variantiVAR_004569249R → Q in CMH1. 6 PublicationsCorresponds to variant rs3218713dbSNPEnsembl.1
Natural variantiVAR_004570256G → E in CMH1. 1 PublicationCorresponds to variant rs121913633dbSNPEnsembl.1
Natural variantiVAR_042772263I → M in CMH1. 1 PublicationCorresponds to variant rs730880855dbSNPEnsembl.1
Natural variantiVAR_004571263I → T in CMH1. 2 PublicationsCorresponds to variant rs397516269dbSNPEnsembl.1
Natural variantiVAR_042773312F → C in CMH1. 1 Publication1
Natural variantiVAR_020803320V → M in CMH1. 1 PublicationCorresponds to variant rs376897125dbSNPEnsembl.1
Natural variantiVAR_042774328E → G in CMH1. 1 Publication1
Natural variantiVAR_004572349M → T in CMH1. 3 PublicationsCorresponds to variant rs121913640dbSNPEnsembl.1
Natural variantiVAR_042775351K → E in CMH1. 2 PublicationsCorresponds to variant rs730880864dbSNPEnsembl.1
Natural variantiVAR_019849355A → T in CMH1. 1 PublicationCorresponds to variant rs397516088dbSNPEnsembl.1
Natural variantiVAR_042776383K → N in CMH1. 1 Publication1
Natural variantiVAR_042777385A → V in CMH1. 1 Publication1
Natural variantiVAR_020804390L → V in CMH1. 2 Publications1
Natural variantiVAR_004573403R → L in CMH1. 2 PublicationsCorresponds to variant rs121913624dbSNPEnsembl.1
Natural variantiVAR_004574403R → Q in CMH1. 11 PublicationsCorresponds to variant rs121913624dbSNPEnsembl.1
Natural variantiVAR_004575403R → W in CMH1. 7 PublicationsCorresponds to variant rs3218714dbSNPEnsembl.1
Natural variantiVAR_042778404V → L in CMH1. 1 Publication1
Natural variantiVAR_042779404V → M in CMH1. 1 PublicationCorresponds to variant rs730880867dbSNPEnsembl.1
Natural variantiVAR_020805406V → M in CMH1. 1 Publication1
Natural variantiVAR_042780407G → V in CMH1. 1 PublicationCorresponds to variant rs397516095dbSNPEnsembl.1
Natural variantiVAR_029432411V → I in CMH1. 3 PublicationsCorresponds to variant rs730880868dbSNPEnsembl.1
Natural variantiVAR_042782425G → R in CMH1. 1 PublicationCorresponds to variant rs397516097dbSNPEnsembl.1
Natural variantiVAR_019850428A → V in CMH1. 2 PublicationsCorresponds to variant rs727503266dbSNPEnsembl.1
Natural variantiVAR_029433430A → E in CMH1. 1 Publication1
Natural variantiVAR_042783435M → T in CMH1. 1 Publication1
Natural variantiVAR_042784440V → M in CMH1. 1 PublicationCorresponds to variant rs397516098dbSNPEnsembl.1
Natural variantiVAR_019851443I → T in CMH1. 1 Publication1
Natural variantiVAR_042786450K → E in CMH1. 1 Publication1
Natural variantiVAR_042787450K → T in CMH1. 1 Publication1
Natural variantiVAR_004576453R → C in CMH1. 10 PublicationsCorresponds to variant rs121913625dbSNPEnsembl.1
Natural variantiVAR_042788453R → H in CMH1. 1 PublicationCorresponds to variant rs397516101dbSNPEnsembl.1
Natural variantiVAR_073880453R → S in CMH1. 1 PublicationCorresponds to variant rs121913625dbSNPEnsembl.1
Natural variantiVAR_019852479N → S in CMH1. 2 PublicationsCorresponds to variant rs727504236dbSNPEnsembl.1
Natural variantiVAR_019853483E → K in CMH1. 1 PublicationCorresponds to variant rs121913651dbSNPEnsembl.1
Natural variantiVAR_073881497E → D in CMH1. 1 PublicationCorresponds to variant rs267606911dbSNPEnsembl.1
Natural variantiVAR_020806499E → K in CMH1. 1 PublicationCorresponds to variant rs3218715dbSNPEnsembl.1
Natural variantiVAR_042789500E → A in CMH1. 1 PublicationCorresponds to variant rs727504286dbSNPEnsembl.1
Natural variantiVAR_042790501Y → C in CMH1. 1 Publication1
Natural variantiVAR_042791511I → F in CMH1. 1 Publication1
Natural variantiVAR_042792511I → T in CMH1. 1 PublicationCorresponds to variant rs397516110dbSNPEnsembl.1
Natural variantiVAR_004577513F → C in CMH1. 1 PublicationCorresponds to variant rs121913636dbSNPEnsembl.1
Natural variantiVAR_042793515M → R in CMH1. 1 Publication1
Natural variantiVAR_039562515M → V in CMH1; infrequent. 1 Publication1
Natural variantiVAR_029435517L → M in CMH1. 1 PublicationCorresponds to variant rs727504237dbSNPEnsembl.1
Natural variantiVAR_042795571G → R in CMH1. 1 PublicationCorresponds to variant rs730880879dbSNPEnsembl.1
Natural variantiVAR_042796576H → R in CMH1. 1 PublicationCorresponds to variant rs727504238dbSNPEnsembl.1
Natural variantiVAR_004578584G → R in CMH1. 1 PublicationCorresponds to variant rs121913626dbSNPEnsembl.1
Natural variantiVAR_029436584G → S in CMH1. 1 PublicationCorresponds to variant rs121913626dbSNPEnsembl.1
Natural variantiVAR_004579587D → V in CMH1. 1
Natural variantiVAR_020807595Q → R in CMH1. 1 Publication1
Natural variantiVAR_020808601L → V in CMH1. 1 Publication1
Natural variantiVAR_004580602N → S in CMH1. Corresponds to variant rs730880880dbSNPEnsembl.1
Natural variantiVAR_004581606V → M in CMH1; in cis with V-728 gives a more severe phenotype. 9 PublicationsCorresponds to variant rs121913627dbSNPEnsembl.1
Natural variantiVAR_004582615K → N in CMH1. 1 Publication1
Natural variantiVAR_042797615K → Q in CMH1. 1 Publication1
Natural variantiVAR_019854659M → I in CMH1. 1 Publication1
Natural variantiVAR_042798663R → C in CMH1. 3 PublicationsCorresponds to variant rs397516127dbSNPEnsembl.1
Natural variantiVAR_019855663R → H in CMH1. 9 PublicationsCorresponds to variant rs371898076dbSNPEnsembl.1
Natural variantiVAR_019856663R → S in CMH1. 1 Publication1
Natural variantiVAR_019857671R → C in CMH1. 2 PublicationsCorresponds to variant rs727503263dbSNPEnsembl.1
Natural variantiVAR_020809694R → C in CMH1. 3 PublicationsCorresponds to variant rs727504240dbSNPEnsembl.1
Natural variantiVAR_029437694R → H in CMH1. 1 Publication1
Natural variantiVAR_020810696N → S in CMH1. 1 PublicationCorresponds to variant rs730880732dbSNPEnsembl.1
Natural variantiVAR_042799698V → A in CMH1. 1 PublicationCorresponds to variant rs397516130dbSNPEnsembl.1
Natural variantiVAR_020811712R → L in CMH1. 1 Publication1
Natural variantiVAR_004583716G → R in CMH1. 4 PublicationsCorresponds to variant rs121913638dbSNPEnsembl.1
Natural variantiVAR_017749719R → Q in CMH1. 8 PublicationsCorresponds to variant rs121913641dbSNPEnsembl.1
Natural variantiVAR_004584719R → W in CMH1. 10 PublicationsCorresponds to variant rs121913637dbSNPEnsembl.1
Natural variantiVAR_004585723R → C in CMH1. 3 PublicationsCorresponds to variant rs121913630dbSNPEnsembl.1
Natural variantiVAR_020812723R → G in CMH1; malignant phenotype. 1 PublicationCorresponds to variant rs121913630dbSNPEnsembl.1
Natural variantiVAR_017750728A → V in CMH1; in cis with M-606 gives a more severe phenotype. 1 PublicationCorresponds to variant rs121913644dbSNPEnsembl.1
Natural variantiVAR_004586731P → L in CMH1. 1
Natural variantiVAR_019858733G → E in CMH1. 1 PublicationCorresponds to variant rs727504241dbSNPEnsembl.1
Natural variantiVAR_029438734Q → E in CMH1. 1 Publication1
Natural variantiVAR_042800734Q → P in CMH1. 1 Publication1
Natural variantiVAR_004587736I → M in CMH1. 1
Natural variantiVAR_029439736I → T in CMH1. 4 PublicationsCorresponds to variant rs727503261dbSNPEnsembl.1
Natural variantiVAR_004588741G → R in CMH1. 4 PublicationsCorresponds to variant rs121913632dbSNPEnsembl.1
Natural variantiVAR_004589741G → W in CMH1. 1 PublicationCorresponds to variant rs121913632dbSNPEnsembl.1
Natural variantiVAR_042801742A → E in CMH1. 1 PublicationCorresponds to variant rs786205907dbSNPEnsembl.1
Natural variantiVAR_014199743E → D in CMH1. 1 PublicationCorresponds to variant rs397516139dbSNPEnsembl.1
Natural variantiVAR_042802763V → G in CMH1. 1 PublicationCorresponds to variant rs730880735dbSNPEnsembl.1
Natural variantiVAR_045926763V → M in CMH1. 1 PublicationCorresponds to variant rs727504253dbSNPEnsembl.1
Natural variantiVAR_019859768G → R in CMH1. 2 PublicationsCorresponds to variant rs727503260dbSNPEnsembl.1
Natural variantiVAR_042803774E → V in CMH1. 1 Publication1
Natural variantiVAR_019860778D → E in CMH1. 2 PublicationsCorresponds to variant rs2069544dbSNPEnsembl.1
Natural variantiVAR_004590778D → G in CMH1. 1 PublicationCorresponds to variant rs121913634dbSNPEnsembl.1
Natural variantiVAR_042804778D → V in CMH1. 1 Publication1
Natural variantiVAR_020813782S → N in CMH1. 3 Publications1
Natural variantiVAR_045927787R → C in CMH1. 1 PublicationCorresponds to variant rs145677314dbSNPEnsembl.1
Natural variantiVAR_019861787R → H in CMH1. 2 PublicationsCorresponds to variant rs376754645dbSNPEnsembl.1
Natural variantiVAR_029440796L → F in CMH1. 1 Publication1
Natural variantiVAR_004591797A → T in CMH1. 3 PublicationsCorresponds to variant rs3218716dbSNPEnsembl.1
Natural variantiVAR_042805822M → L in CMH1. 1 PublicationCorresponds to variant rs730880742dbSNPEnsembl.1
Natural variantiVAR_042806822M → T in CMH1. 1 Publication1
Natural variantiVAR_042807823G → E in CMH1. 1 Publication1
Natural variantiVAR_029441824V → I in CMH1. 1 Publication1
Natural variantiVAR_020814846E → Q in CMH1. 1 PublicationCorresponds to variant rs730880748dbSNPEnsembl.1
Natural variantiVAR_042808847Missing in CMH1. 1 Publication1
Natural variantiVAR_019862852M → T in CMH1. 1 PublicationCorresponds to variant rs397516157dbSNPEnsembl.1
Natural variantiVAR_039563858R → C in CMH1; infrequent. 2 PublicationsCorresponds to variant rs2754158dbSNPEnsembl.1
Natural variantiVAR_042809858R → H in CMH1. 1 PublicationCorresponds to variant rs2856897dbSNPEnsembl.1
Natural variantiVAR_020815869R → C in CMH1. 1 PublicationCorresponds to variant rs730880750dbSNPEnsembl.1
Natural variantiVAR_019863869R → G in CMH1. 1 Publication1
Natural variantiVAR_042810869R → H in CMH1. 1 PublicationCorresponds to variant rs202141173dbSNPEnsembl.1
Natural variantiVAR_020816870R → C in CMH1. 2 PublicationsCorresponds to variant rs36211715dbSNPEnsembl.1
Natural variantiVAR_004592870R → H in CMH1. 3 PublicationsCorresponds to variant rs36211715dbSNPEnsembl.1
Natural variantiVAR_020817877M → K in CMH1. 1 Publication1
Natural variantiVAR_042811882Q → E in CMH1. 1 PublicationCorresponds to variant rs397516160dbSNPEnsembl.1
Natural variantiVAR_019864883Missing in CMH1. 1 Publication1
Natural variantiVAR_042812894E → G in CMH1. 2 PublicationsCorresponds to variant rs397516161dbSNPEnsembl.1
Natural variantiVAR_042813901A → G in CMH1. 1 Publication1
Natural variantiVAR_029442905C → F in CMH1. 1 Publication1
Natural variantiVAR_042814906D → G in CMH1. 2 PublicationsCorresponds to variant rs267606908dbSNPEnsembl.1
Natural variantiVAR_004593908L → V in CMH1. 7 PublicationsCorresponds to variant rs121913631dbSNPEnsembl.1
Natural variantiVAR_042815921E → K in CMH1. 1 PublicationCorresponds to variant rs730880759dbSNPEnsembl.1
Natural variantiVAR_004594924E → K in CMH1. 4 PublicationsCorresponds to variant rs121913628dbSNPEnsembl.1
Natural variantiVAR_029443924E → Q in CMH1. 1 Publication1
Natural variantiVAR_042816927E → K in CMH1. 1 PublicationCorresponds to variant rs397516170dbSNPEnsembl.1
Natural variantiVAR_020818927Missing in CMH1. 1 Publication1
Natural variantiVAR_029444928D → N in CMH1. 2 PublicationsCorresponds to variant rs727503252dbSNPEnsembl.1
Natural variantiVAR_004595930E → K in CMH1. 2 PublicationsCorresponds to variant rs397516171dbSNPEnsembl.1
Natural variantiVAR_004596930Missing in CMH1. 2 Publications1
Natural variantiVAR_042817931E → K in CMH1. 1 Publication1
Natural variantiVAR_004597935E → K in CMH1. Corresponds to variant rs121913639dbSNPEnsembl.1
Natural variantiVAR_004598949E → K in CMH1. Corresponds to variant rs121913629dbSNPEnsembl.1
Natural variantiVAR_042818953D → H in CMH1. 1 Publication1
Natural variantiVAR_0428201057G → D in CMH1. 1 Publication1
Natural variantiVAR_0428211057G → S in CMH1. 1 PublicationCorresponds to variant rs397516179dbSNPEnsembl.1
Natural variantiVAR_0198651135L → R in CMH1. 1 Publication1
Natural variantiVAR_0198661218E → Q in CMH1. 1 Publication1
Natural variantiVAR_0428231327N → K in CMH1. 1 PublicationCorresponds to variant rs141764279dbSNPEnsembl.1
Natural variantiVAR_0428241356E → K in CMH1. 2 PublicationsCorresponds to variant rs727503246dbSNPEnsembl.1
Natural variantiVAR_0198671377T → M in CMH1. 2 PublicationsCorresponds to variant rs397516201dbSNPEnsembl.1
Natural variantiVAR_0198681379A → T in CMH1. 2 PublicationsCorresponds to variant rs397516202dbSNPEnsembl.1
Natural variantiVAR_0198691382R → W in CMH1. 1 PublicationCorresponds to variant rs730880910dbSNPEnsembl.1
Natural variantiVAR_0459281414L → M in CMH1. 1 PublicationCorresponds to variant rs201895208dbSNPEnsembl.1
Natural variantiVAR_0428251420R → W in CMH1. 1 PublicationCorresponds to variant rs145213771dbSNPEnsembl.1
Natural variantiVAR_0428271454A → T in CMH1. 1 Publication1
Natural variantiVAR_0428281459K → N in CMH1 and CMD1S. 2 PublicationsCorresponds to variant rs201307101dbSNPEnsembl.1
Natural variantiVAR_0428301513T → S in CMH1. 1 PublicationCorresponds to variant rs397516222dbSNPEnsembl.1
Natural variantiVAR_0208201555E → K in CMH1. 1 Publication1
Natural variantiVAR_0428341712R → W in CMH1. 1 PublicationCorresponds to variant rs121913650dbSNPEnsembl.1
Natural variantiVAR_0728161752E → K in CMH1; associated with phenotype variability. 1 PublicationCorresponds to variant rs730880916dbSNPEnsembl.1
Natural variantiVAR_0428361753E → K in CMH1. 1 PublicationCorresponds to variant rs545585809dbSNPEnsembl.1
Natural variantiVAR_0428371768E → K in CMH1. 1 PublicationCorresponds to variant rs397516241dbSNPEnsembl.1
Natural variantiVAR_0208211776S → G in CMH1. 1 PublicationCorresponds to variant rs369437262dbSNPEnsembl.1
Natural variantiVAR_0198711777A → T in CMH1. 1 PublicationCorresponds to variant rs200939753dbSNPEnsembl.1
Natural variantiVAR_0428381854T → M in CMH1. 1 PublicationCorresponds to variant rs372381770dbSNPEnsembl.1
Natural variantiVAR_0428391883E → K in CMH1. 1 PublicationCorresponds to variant rs121913652dbSNPEnsembl.1
Natural variantiVAR_0428421929T → M in CMH1. 1 PublicationCorresponds to variant rs730880918dbSNPEnsembl.1
Myopathy, myosin storage, autosomal dominant (MSMA)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare congenital myopathy characterized by subsarcolemmal hyalinized bodies in type 1 muscle fibers.
See also OMIM:608358
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0738861793L → P in MSMA. 1 PublicationCorresponds to variant rs121913654dbSNPEnsembl.1
Natural variantiVAR_0177541845R → W in MSMA and SPMM. 2 PublicationsCorresponds to variant rs28933098dbSNPEnsembl.1
Natural variantiVAR_0428401901H → L in MSMA. 1 PublicationCorresponds to variant rs121913649dbSNPEnsembl.1
Scapuloperoneal myopathy MYH7-related (SPMM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionProgressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm.
See also OMIM:181430
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0177541845R → W in MSMA and SPMM. 2 PublicationsCorresponds to variant rs28933098dbSNPEnsembl.1
Cardiomyopathy, dilated 1S (CMD1S)6 Publications
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:613426
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_042768201I → T in CMD1S. 1 PublicationCorresponds to variant rs397516258dbSNPEnsembl.1
Natural variantiVAR_017746223A → T in CMD1S. 1 PublicationCorresponds to variant rs121913645dbSNPEnsembl.1
Natural variantiVAR_073875239Missing in CMD1S. 1 Publication1
Natural variantiVAR_073876243R → H in CMH1 and CMD1S. 2 Publications