Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 233 (13 Nov 2019)
Sequence version 5 (06 Dec 2005)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Myosin-7

Gene

MYH7

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

Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamental contractile unit of skeletal and cardiac muscle.2 Publications

Miscellaneous

The cardiac alpha isoform is a 'fast' ATPase myosin, while the beta isoform is a 'slow' ATPase.

Caution

Represents a conventional myosin. This protein should not be confused with the unconventional myosin-7 (MYO7).Curated

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi178 – 185ATP8

<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 functionActin-binding, Calmodulin-binding, Motor protein, Muscle protein, Myosin
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P12883

<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:
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
<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:MYH7
Synonyms:MYHCB
<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 14

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7577 MYH7

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
160760 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P12883

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Thick filament

<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

Cardiomyopathy, familial hypertrophic 1 (CMH1)56 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.
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_00456626A → V in CMH1. 1 PublicationCorresponds to variant dbSNP:rs186964570EnsemblClinVar.1
Natural variantiVAR_01984539V → M in CMH1. 1 PublicationCorresponds to variant dbSNP:rs376160714EnsemblClinVar.1
Natural variantiVAR_00456759V → I in CMH1. Corresponds to variant dbSNP:rs771132107Ensembl.1
Natural variantiVAR_042762115Y → H in CMH1. 1 PublicationCorresponds to variant dbSNP:rs397516183EnsemblClinVar.1
Natural variantiVAR_020797124T → I in CMH1. 1 Publication1
Natural variantiVAR_042763143R → G in CMH1. 1 PublicationCorresponds to variant dbSNP:rs727503278EnsemblClinVar.1
Natural variantiVAR_004568143R → Q in CMH1. 2 PublicationsCorresponds to variant dbSNP:rs397516209EnsemblClinVar.1
Natural variantiVAR_029431143R → W in CMH1. 1 PublicationCorresponds to variant dbSNP:rs727503278EnsemblClinVar.1
Natural variantiVAR_042764146K → N in CMH1. 2 PublicationsCorresponds to variant dbSNP:rs397516212EnsemblClinVar.1
Natural variantiVAR_042765148S → I in CMH1. 1 PublicationCorresponds to variant dbSNP:rs772691929Ensembl.1
Natural variantiVAR_020798162Y → C in CMH1. 1 PublicationCorresponds to variant dbSNP:rs1057517771EnsemblClinVar.1
Natural variantiVAR_042766186V → L in CMH1. 1 PublicationCorresponds to variant dbSNP:rs786205906EnsemblClinVar.1
Natural variantiVAR_020799187N → K in CMH1. 1 PublicationCorresponds to variant dbSNP:rs1057517772EnsemblClinVar.1
Natural variantiVAR_019846188T → N in CMH1. 1 PublicationCorresponds to variant dbSNP:rs730880844Ensembl.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 dbSNP:rs397516260EnsemblClinVar.1
Natural variantiVAR_042769207K → Q in CMH1. 1 PublicationCorresponds to variant dbSNP:rs727504273EnsemblClinVar.1
Natural variantiVAR_042770211P → L in CMH1. 3 PublicationsCorresponds to variant dbSNP:rs727503277EnsemblClinVar.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 LVNC5. 2 PublicationsCorresponds to variant dbSNP:rs267606910EnsemblClinVar.1
Natural variantiVAR_020802244F → L in CMH1. 1 PublicationCorresponds to variant dbSNP:rs730880849EnsemblClinVar.1
Natural variantiVAR_004569249R → Q in CMH1. 6 PublicationsCorresponds to variant dbSNP:rs3218713EnsemblClinVar.1
Natural variantiVAR_004570256G → E in CMH1. 1 PublicationCorresponds to variant dbSNP:rs121913633EnsemblClinVar.1
Natural variantiVAR_042772263I → M in CMH1. 1 PublicationCorresponds to variant dbSNP:rs730880855EnsemblClinVar.1
Natural variantiVAR_004571263I → T in CMH1. 2 PublicationsCorresponds to variant dbSNP:rs397516269EnsemblClinVar.1
Natural variantiVAR_042773312F → C in CMH1. 1 Publication1
Natural variantiVAR_020803320V → M in CMH1. 1 PublicationCorresponds to variant dbSNP:rs376897125EnsemblClinVar.1
Natural variantiVAR_042774328E → G in CMH1. 1 Publication1
Natural variantiVAR_004572349M → T in CMH1. 3 PublicationsCorresponds to variant dbSNP:rs121913640EnsemblClinVar.1
Natural variantiVAR_042775351K → E in CMH1. 2 PublicationsCorresponds to variant dbSNP:rs730880864EnsemblClinVar.1
Natural variantiVAR_019849355A → T in CMH1. 1 PublicationCorresponds to variant dbSNP:rs397516088EnsemblClinVar.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 dbSNP:rs121913624EnsemblClinVar.1
Natural variantiVAR_004574403R → Q in CMH1. 11 PublicationsCorresponds to variant dbSNP:rs121913624EnsemblClinVar.1
Natural variantiVAR_004575403R → W in CMH1. 7 PublicationsCorresponds to variant dbSNP:rs3218714EnsemblClinVar.1
Natural variantiVAR_042778404V → L in CMH1. 1 Publication1
Natural variantiVAR_042779404V → M in CMH1. 1 PublicationCorresponds to variant dbSNP:rs730880867Ensembl.1
Natural variantiVAR_020805406V → M in CMH1. 1 Publication1
Natural variantiVAR_042780407G → V in CMH1. 1 PublicationCorresponds to variant dbSNP:rs397516095EnsemblClinVar.1
Natural variantiVAR_029432411V → I in CMH1. 3 PublicationsCorresponds to variant dbSNP:rs730880868EnsemblClinVar.1
Natural variantiVAR_042782425G → R in CMH1. 1 PublicationCorresponds to variant dbSNP:rs397516097EnsemblClinVar.1
Natural variantiVAR_019850428A → V in CMH1. 2 PublicationsCorresponds to variant dbSNP:rs727503266EnsemblClinVar.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 dbSNP:rs397516098EnsemblClinVar.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 dbSNP:rs121913625EnsemblClinVar.1
Natural variantiVAR_042788453R → H in CMH1. 1 PublicationCorresponds to variant dbSNP:rs397516101EnsemblClinVar.1
Natural variantiVAR_073880453R → S in CMH1. 1 PublicationCorresponds to variant dbSNP:rs121913625EnsemblClinVar.1
Natural variantiVAR_019852479N → S in CMH1. 2 PublicationsCorresponds to variant dbSNP:rs727504236EnsemblClinVar.1
Natural variantiVAR_019853483E → K in CMH1. 1 PublicationCorresponds to variant dbSNP:rs121913651EnsemblClinVar.1
Natural variantiVAR_073881497E → D in CMH1. 1 PublicationCorresponds to variant dbSNP:rs267606911EnsemblClinVar.1
Natural variantiVAR_020806499E → K in CMH1. 1 PublicationCorresponds to variant dbSNP:rs3218715Ensembl.1
Natural variantiVAR_042789500E → A in CMH1. 1 PublicationCorresponds to variant dbSNP:rs727504286EnsemblClinVar.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 dbSNP:rs397516110EnsemblClinVar.1
Natural variantiVAR_004577513F → C in CMH1. 1 PublicationCorresponds to variant dbSNP:rs121913636EnsemblClinVar.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 dbSNP:rs727504237EnsemblClinVar.1
Natural variantiVAR_042795571G → R in CMH1. 1 PublicationCorresponds to variant dbSNP:rs730880879EnsemblClinVar.1
Natural variantiVAR_042796576H → R in CMH1. 1 PublicationCorresponds to variant dbSNP:rs727504238EnsemblClinVar.1
Natural variantiVAR_004578584G → R in CMH1. 1 PublicationCorresponds to variant dbSNP:rs121913626EnsemblClinVar.1
Natural variantiVAR_029436584G → S in CMH1. 1 PublicationCorresponds to variant dbSNP:rs121913626EnsemblClinVar.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 dbSNP:rs730880880EnsemblClinVar.1
Natural variantiVAR_004581606V → M in CMH1; in cis with V-728 gives a more severe phenotype. 9 PublicationsCorresponds to variant dbSNP:rs121913627EnsemblClinVar.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 dbSNP:rs397516127EnsemblClinVar.1
Natural variantiVAR_019855663R → H in CMH1. 9 PublicationsCorresponds to variant dbSNP:rs371898076EnsemblClinVar.1
Natural variantiVAR_019856663R → S in CMH1. 1 Publication1
Natural variantiVAR_019857671R → C in CMH1. 2 PublicationsCorresponds to variant dbSNP:rs727503263EnsemblClinVar.1
Natural variantiVAR_020809694R → C in CMH1. 3 PublicationsCorresponds to variant dbSNP:rs727504240EnsemblClinVar.1
Natural variantiVAR_029437694R → H in CMH1. 1 PublicationCorresponds to variant dbSNP:rs886039030EnsemblClinVar.1
Natural variantiVAR_020810696N → S in CMH1. 1 PublicationCorresponds to variant dbSNP:rs730880732EnsemblClinVar.1
Natural variantiVAR_042799698V → A in CMH1. 1 PublicationCorresponds to variant dbSNP:rs397516130EnsemblClinVar.1
Natural variantiVAR_020811712R → L in CMH1. 1 Publication1
Natural variantiVAR_004583716G → R in CMH1. 4 PublicationsCorresponds to variant dbSNP:rs121913638EnsemblClinVar.1
Natural variantiVAR_017749719R → Q in CMH1. 8 PublicationsCorresponds to variant dbSNP:rs121913641EnsemblClinVar.1
Natural variantiVAR_004584719R → W in CMH1. 10 PublicationsCorresponds to variant dbSNP:rs121913637EnsemblClinVar.1
Natural variantiVAR_004585723R → C in CMH1. 3 PublicationsCorresponds to variant dbSNP:rs121913630EnsemblClinVar.1
Natural variantiVAR_020812723R → G in CMH1; malignant phenotype. 1 PublicationCorresponds to variant dbSNP:rs121913630EnsemblClinVar.1
Natural variantiVAR_017750728A → V in CMH1; in cis with M-606 gives a more severe phenotype. 1 PublicationCorresponds to variant dbSNP:rs121913644EnsemblClinVar.1
Natural variantiVAR_004586731P → L in CMH1. 1
Natural variantiVAR_019858733G → E in CMH1. 1 PublicationCorresponds to variant dbSNP:rs727504241EnsemblClinVar.1
Natural variantiVAR_029438734Q → E in CMH1. 1 Publication1
Natural variantiVAR_042800734Q → P in CMH1. 1 PublicationCorresponds to variant dbSNP:rs863225097EnsemblClinVar.1
Natural variantiVAR_004587736I → M in CMH1. 1
Natural variantiVAR_029439736I → T in CMH1. 4 PublicationsCorresponds to variant dbSNP:rs727503261EnsemblClinVar.1
Natural variantiVAR_004588741G → R in CMH1. 4 PublicationsCorresponds to variant dbSNP:rs121913632EnsemblClinVar.1
Natural variantiVAR_004589741G → W in CMH1. 1 PublicationCorresponds to variant dbSNP:rs121913632EnsemblClinVar.1
Natural variantiVAR_042801742A → E in CMH1. 1 PublicationCorresponds to variant dbSNP:rs786205907EnsemblClinVar.1
Natural variantiVAR_014199743E → D in CMH1. 1 PublicationCorresponds to variant dbSNP:rs397516139EnsemblClinVar.1
Natural variantiVAR_042802763V → G in CMH1. 1 PublicationCorresponds to variant dbSNP:rs730880735EnsemblClinVar.1
Natural variantiVAR_045926763V → M in CMH1. 1 PublicationCorresponds to variant dbSNP:rs727504253EnsemblClinVar.1
Natural variantiVAR_019859768G → R in CMH1. 2 PublicationsCorresponds to variant dbSNP:rs727503260EnsemblClinVar.1
Natural variantiVAR_042803774E → V in CMH1. 1 Publication1
Natural variantiVAR_019860778D → E in CMH1. 2 PublicationsCorresponds to variant dbSNP:rs2069544EnsemblClinVar.1
Natural variantiVAR_004590778D → G in CMH1. 1 PublicationCorresponds to variant dbSNP:rs121913634EnsemblClinVar.1
Natural variantiVAR_042804778D → V in CMH1. 1 Publication1
Natural variantiVAR_020813782S → N in CMH1. 3 PublicationsCorresponds to variant dbSNP:rs886039185EnsemblClinVar.1
Natural variantiVAR_045927787R → C in CMH1. 1 PublicationCorresponds to variant dbSNP:rs145677314EnsemblClinVar.1
Natural variantiVAR_019861787R → H in CMH1. 2 PublicationsCorresponds to variant dbSNP:rs376754645EnsemblClinVar.1
Natural variantiVAR_029440796L → F in CMH1. 1 Publication1
Natural variantiVAR_004591797A → T in CMH1. 3 PublicationsCorresponds to variant dbSNP:rs3218716EnsemblClinVar.1
Natural variantiVAR_042805822M → L in CMH1. 1 PublicationCorresponds to variant dbSNP:rs730880742EnsemblClinVar.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 dbSNP:rs730880748EnsemblClinVar.1
Natural variantiVAR_042808847Missing in CMH1. 1 Publication1
Natural variantiVAR_019862852M → T in CMH1. 1 PublicationCorresponds to variant dbSNP:rs397516157EnsemblClinVar.1
Natural variantiVAR_039563858R → C in CMH1; infrequent. 2 PublicationsCorresponds to variant dbSNP:rs2754158EnsemblClinVar.1
Natural variantiVAR_042809858R → H in CMH1. 1 PublicationCorresponds to variant dbSNP:rs2856897EnsemblClinVar.1
Natural variantiVAR_020815869R → C in CMH1. 1 PublicationCorresponds to variant dbSNP:rs730880750Ensembl.1
Natural variantiVAR_019863869R → G in CMH1. 1 Publication1
Natural variantiVAR_042810869R → H in CMH1. 1 PublicationCorresponds to variant dbSNP:rs202141173EnsemblClinVar.1
Natural variantiVAR_020816870R → C in CMH1. 2 PublicationsCorresponds to variant dbSNP:rs36211715EnsemblClinVar.1
Natural variantiVAR_004592870R → H in CMH1. 3 PublicationsCorresponds to variant dbSNP:rs36211715EnsemblClinVar.1
Natural variantiVAR_020817877M → K in CMH1. 1 Publication1
Natural variantiVAR_042811882Q → E in CMH1. 1 PublicationCorresponds to variant dbSNP:rs397516160EnsemblClinVar.1
Natural variantiVAR_019864883Missing in CMH1. 1 Publication1
Natural variantiVAR_042812894E → G in CMH1. 2 PublicationsCorresponds to variant dbSNP:rs397516161EnsemblClinVar.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 dbSNP:rs267606908EnsemblClinVar.1
Natural variantiVAR_004593908L → V in CMH1. 7 PublicationsCorresponds to variant dbSNP:rs121913631EnsemblClinVar.1
Natural variantiVAR_042815921E → K in CMH1. 1 PublicationCorresponds to variant dbSNP:rs730880759EnsemblClinVar.1
Natural variantiVAR_004594924E → K in CMH1. 4 PublicationsCorresponds to variant dbSNP:rs121913628EnsemblClinVar.1
Natural variantiVAR_029443924E → Q in CMH1. 1 Publication1
Natural variantiVAR_042816927E → K in CMH1. 1 PublicationCorresponds to variant dbSNP:rs397516170EnsemblClinVar.1
Natural variantiVAR_020818927Missing in CMH1. 1 Publication1
Natural variantiVAR_029444928D → N in CMH1. 2 PublicationsCorresponds to variant dbSNP:rs727503252EnsemblClinVar.1
Natural variantiVAR_004595930E → K in CMH1. 2 PublicationsCorresponds to variant dbSNP:rs397516171EnsemblClinVar.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 dbSNP:rs121913639EnsemblClinVar.1
Natural variantiVAR_004598949E → K in CMH1. Corresponds to variant dbSNP:rs121913629EnsemblClinVar.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 dbSNP:rs397516179EnsemblClinVar.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 dbSNP:rs141764279EnsemblClinVar.1
Natural variantiVAR_0428241356E → K in CMH1. 2 PublicationsCorresponds to variant dbSNP:rs727503246EnsemblClinVar.1
Natural variantiVAR_0198671377T → M in CMH1. 2 PublicationsCorresponds to variant dbSNP:rs397516201EnsemblClinVar.1
Natural variantiVAR_0198681379A → T in CMH1. 2 PublicationsCorresponds to variant dbSNP:rs397516202EnsemblClinVar.1
Natural variantiVAR_0198691382R → W in CMH1. 1 PublicationCorresponds to variant dbSNP:rs730880910EnsemblClinVar.1
Natural variantiVAR_0459281414L → M in CMH1. 1 PublicationCorresponds to variant dbSNP:rs201895208EnsemblClinVar.1
Natural variantiVAR_0428251420R → W in CMH1. 1 PublicationCorresponds to variant dbSNP:rs145213771EnsemblClinVar.1
Natural variantiVAR_0428271454A → T in CMH1. 1 Publication1
Natural variantiVAR_0428281459K → N in CMH1 and CMD1S. 2 PublicationsCorresponds to variant dbSNP:rs201307101EnsemblClinVar.1
Natural variantiVAR_0428301513T → S in CMH1. 1 PublicationCorresponds to variant dbSNP:rs397516222EnsemblClinVar.1
Natural variantiVAR_0208201555E → K in CMH1. 1 Publication1
Natural variantiVAR_0428341712R → W in CMH1. 1 PublicationCorresponds to variant dbSNP:rs121913650EnsemblClinVar.1
Natural variantiVAR_0728161752E → K in CMH1; associated with phenotype variability. 1 PublicationCorresponds to variant dbSNP:rs730880916EnsemblClinVar.1
Natural variantiVAR_0428361753E → K in CMH1. 1 PublicationCorresponds to variant dbSNP:rs545585809Ensembl.1
Natural variantiVAR_0428371768E → K in CMH1. 1 PublicationCorresponds to variant dbSNP:rs397516241EnsemblClinVar.1
Natural variantiVAR_0208211776S → G in CMH1. 1 PublicationCorresponds to variant dbSNP:rs369437262EnsemblClinVar.1
Natural variantiVAR_0198711777A → T in CMH1. 1 PublicationCorresponds to variant dbSNP:rs200939753EnsemblClinVar.1
Natural variantiVAR_0428381854T → M in CMH1. 1 PublicationCorresponds to variant dbSNP:rs372381770EnsemblClinVar.1
Natural variantiVAR_0428391883E → K in CMH1. 1 PublicationCorresponds to variant dbSNP:rs121913652EnsemblClinVar.1
Natural variantiVAR_0428421929T → M in CMH1. 1 PublicationCorresponds to variant dbSNP:rs730880918EnsemblClinVar.1
Myopathy, myosin storage, autosomal dominant (MSMA)4 Publications