MYH7 (myosin heavy chain 7)

Gene

• Entrez ID: 4625
• Gene name: Myosin heavy chain 7
• Gene symbol: MYH7
• Synonyms: CMD1S, CMH1, MPD1, MYHCB, SPMD, SPMM
• Chromosome: 14
• Chromosome location: 14q11.2
• Summary: Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2069544	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant, synonymous variant
rs2754158	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs2856897	C>A,G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs3218713	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs3218714	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs3218716	C>A,G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs4981473	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs36211715	C>A,G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs36211716	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, synonymous variant
rs45478699	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs45496496	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs45516091	G>A	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs45611033	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs113186231	C>G,T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs113392527	C>A,G,T	Likely-pathogenic	Splice acceptor variant
rs121913624	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913625	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913626	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913627	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913628	C>G,T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121913629	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913630	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913631	G>C	Pathogenic	Missense variant, coding sequence variant
rs121913632	C>A,G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913633	C>T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121913634	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs121913636	A>C	Pathogenic	Missense variant, coding sequence variant
rs121913637	G>A	Pathogenic	Missense variant, coding sequence variant
rs121913638	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913639	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913640	A>G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913641	C>G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913642	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913643	G>A,C	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs121913644	G>A	Pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs121913645	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913646	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121913651	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913653	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs138049878	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs139506719	C>T	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Coding sequence variant, synonymous variant
rs141414377	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs141735183	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs145532615	A>G	Benign, benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs148808089	G>A	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs149840927	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs192722540	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs193922387	TCT>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, inframe deletion
rs193922388	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs199552354	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs200129563	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs201012865	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201860580	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs202141173	C>T	Pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs267606908	T>C	Pathogenic	Coding sequence variant, missense variant
rs267606910	C>T	Pathogenic-likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs267606911	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-benign, likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs367543053	T>C	Pathogenic, uncertain-significance	Stop lost, terminator codon variant
rs369490861	G>A,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs371898076	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs372731424	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs376754645	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs376897125	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs377491278	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs397515482	A>C	Pathogenic	Coding sequence variant, missense variant
rs397516087	A>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516088	C>A,G,T	Pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516089	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516092	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516095	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs397516097	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs397516098	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs397516101	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516103	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs397516110	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516115	C>A,T	Likely-pathogenic, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs397516121	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397516122	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397516123	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs397516127	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397516128	A>G	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516130	A>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516132	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397516134	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516135	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516138	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs397516139	C>G,T	Likely-pathogenic, pathogenic, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs397516142	C>A,G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516149	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516150	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs397516152	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs397516153	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397516154	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516155	TCT>-	Uncertain-significance, likely-pathogenic	Inframe deletion, coding sequence variant
rs397516156	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397516157	A>C,G,T	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516160	G>A,C	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs397516161	T>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs397516165	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516166	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397516171	C>G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516172	CTC>-	Likely-pathogenic, pathogenic	Inframe deletion, coding sequence variant
rs397516178	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516183	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs397516209	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516212	C>A,T	Pathogenic, likely-pathogenic, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs397516224	G>-	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant
rs397516237	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397516238	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs397516258	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs397516259	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs397516260	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397516262	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs397516264	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516265	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs397516268	T>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs397516269	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs397516272	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs564101364	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs587780395	G>A,C,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs587781089	G>A,C	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant
rs587782961	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs587782962	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs606231315	C>T	Likely-pathogenic	Splice acceptor variant
rs606231316	T>A	Pathogenic	Coding sequence variant, missense variant
rs606231318	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs606231319	G>T	Pathogenic	Coding sequence variant, missense variant
rs606231321	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs606231322	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs606231323	G>T	Pathogenic	Coding sequence variant, missense variant
rs606231324	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs606231328	T>C	Pathogenic	Coding sequence variant, missense variant
rs606231329	A>C	Pathogenic	Splice donor variant
rs606231331	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231332	A>C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs606231334	C>A,T	Pathogenic	Splice acceptor variant
rs606231335	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs606231337	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231340	C>T	Pathogenic	Coding sequence variant, missense variant
rs727503252	C>T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs727503253	G>A	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs727503254	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727503258	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727503260	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727503261	A>G,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727503263	G>A	Likely-pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs727503264	T>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs727503265	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs727503266	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs727503269	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727503271	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs727503272	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727503274	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727503276	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs727503277	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727503278	G>A,C,T	Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs727504236	T>C	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs727504237	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs727504238	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs727504239	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504240	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727504241	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504267	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs727504272	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727504273	T>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727504274	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504280	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs727504283	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504294	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs727504299	G>A,C,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727504310	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs727504311	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504336	AT>-	Uncertain-significance, likely-pathogenic	Coding sequence variant, frameshift variant
rs727504356	C>A,G	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727504409	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs727504558	T>A,C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs727504753	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727504925	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs727505132	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs727505202	A>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880154	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880158	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880159	T>A,C,G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs730880160	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880161	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880731	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880733	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880734	C>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs730880736	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880741	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880742	T>A,C,G	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880743	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880745	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880747	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880748	C>G	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs730880749	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880750	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880753	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880754	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880756	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs730880757	C>A,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880758	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880759	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs730880760	T>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880761	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs730880763	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880764	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880765	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880766	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs730880768	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880769	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880773	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880826	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs730880832	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880833	A>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880836	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880837	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880842	T>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880843	T>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880846	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880847	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880849	A>G	Pathogenic	Coding sequence variant, missense variant
rs730880850	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs730880853	C>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880855	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880856	C>G,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880857	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880859	A>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880863	A>G	Pathogenic	Coding sequence variant, missense variant
rs730880864	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880868	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880869	T>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880870	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs730880872	A>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880875	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880876	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880878	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880883	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880884	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880887	CCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs730880888	GA>TT	Likely-pathogenic	Coding sequence variant, missense variant
rs730880894	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880895	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880896	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs730880898	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880901	T>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs730880902	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880903	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs730880920	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880921	G>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs730880922	A>C	Likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs730880927	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880929	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs730880930	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs758891557	T>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs760187215	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs765279420	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs765458590	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs772488436	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs863224900	A>C,G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs863225095	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs863225097	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs863225098	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs863225099	CCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs863225100	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs863225101	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs863225102	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs863225103	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs868789318	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs869025477	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs876657887	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs878853842	G>T	Pathogenic	Coding sequence variant, missense variant
rs886038901	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs886039030	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs886039185	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886039204	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs934278063	A>C,G	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1057517771	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517773	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1057519221	C>T	Likely-pathogenic	Splice acceptor variant
rs1057520814	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524857	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1060501432	A>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1060501436	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1060501439	T>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1060501443	A>G	Pathogenic	Missense variant, coding sequence variant
rs1060501448	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1060501452	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1060505018	C>A,G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1064793206	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796729	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064797184	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1085307959	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691514	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1131691562	T>C	Pathogenic	Missense variant, coding sequence variant
rs1131691577	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691685	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1173617248	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1224554825	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1427104281	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1555337794	A>G	Pathogenic	Coding sequence variant, missense variant
rs1555337846	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555337916	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555338080	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555338254	CCT>-	Uncertain-significance, likely-pathogenic	Inframe deletion, coding sequence variant
rs1555338578	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555338658	A>C	Uncertain-significance, likely-pathogenic	Splice donor variant
rs1566530698	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1566531303	A>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1566531421	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1566533919	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566535410	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1566536418	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1566536436	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1566537070	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1595081779	CCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1595084560	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1595084583	G>T	Pathogenic	Missense variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IDA	15621050
GO:0000146	Function	Microfilament motor activity	NAS	3021460
GO:0001725	Component	Stress fiber	IEA
GO:0002026	Process	Regulation of the force of heart contraction	IDA	15621050
GO:0002027	Process	Regulation of heart rate	IDA	15621050
GO:0003009	Process	Skeletal muscle contraction	IMP	7883988
GO:0005515	Function	Protein binding	IPI	17192269, 20847312, 25416956, 32296183
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005859	Component	Muscle myosin complex	TAS	3021460
GO:0006936	Process	Muscle contraction	IDA	15621050
GO:0006936	Process	Muscle contraction	TAS	15856146
GO:0006941	Process	Striated muscle contraction	IDA	15621050
GO:0007512	Process	Adult heart development	IMP	15856146
GO:0014728	Process	Regulation of the force of skeletal muscle contraction	IMP	7883988
GO:0014883	Process	Transition between fast and slow fiber	IEA
GO:0014898	Process	Cardiac muscle hypertrophy in response to stress	IEA
GO:0016459	Component	Myosin complex	TAS	12933792
GO:0016887	Function	ATPase activity	IDA	15621050
GO:0030016	Component	Myofibril	ISS
GO:0030017	Component	Sarcomere	ISS
GO:0030017	Component	Sarcomere	TAS	16754800
GO:0030018	Component	Z disc	IEA
GO:0030049	Process	Muscle filament sliding	IMP	8514894, 16088376
GO:0030898	Function	Actin-dependent ATPase activity	IMP	16088376
GO:0031449	Process	Regulation of slow-twitch skeletal muscle fiber contraction	IMP	7883988
GO:0032982	Component	Myosin filament	IDA	19336582
GO:0046034	Process	ATP metabolic process	IDA	15621050
GO:0051015	Function	Actin filament binding	IEA
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	15856146, 16754800
GO:0060048	Process	Cardiac muscle contraction	IMP	7883988

Other IDs

• MIM: 160760
• HGNC: 7577
• e!Ensembl: ENSG00000092054

Protein

• UniProt ID: P12883
• Protein name: Myosin-7 (Myosin heavy chain 7) (Myosin heavy chain slow isoform) (MyHC-slow) (Myosin heavy chain, cardiac muscle beta isoform) (MyHC-beta)
• Protein function: 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.
• PDB: 1IK2, 2FXM, 2FXO, 3DTP, 4DB1, 4P7H, 4PA0, 4XA1, 4XA3, 4XA4, 4XA6, 5CHX, 5CJ0, 5CJ1, 5CJ4, 5TBY, 5WJ7, 5WJB, 5WLQ, 5WLZ, 5WME, 6PF2, 6PFP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02736	Myosin_N	34 → 73	Myosin N-terminal SH3-like domain	Domain
  PF00063	Myosin_head	87 → 766	Myosin head (motor domain)	Domain
  PF01576	Myosin_tail_1	843 → 1924	Myosin tail	Coiled-coil

• Sequence:

  MGDSEMAVFGAAAPYLRKSEKERLEAQTRPFDLKKDVFVPDDKQEFVKAKIVSREGGKVT
  AETEYGKTVTVKEDQVMQQNPPKFDKIEDMAMLTFLHEPAVLYNLKDRYGSWMIYTYSGL
  FCVTVNPYKWLPVYTPEVVAAYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGES
  GAGKTVNTKRVIQYFAVIAAIGDRSKKDQSPGKGTLEDQIIQANPALEAFGNAKTVRNDN
  SSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERDYHIFYQILSNKKPELLDM
  LLITNNPYDYAFISQGETTVASIDDAEELMATDNAFDVLGFTSEEKNSMYKLTGAIMHFG
  NMKFKLKQREEQAEPDGTEEADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQNVQQV
  IYATGALAKAVYERMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINF
  TNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECMF
  PKATDMTFKAKLFDNHLGKSANFQKPRNIKGKPEAHFSLIHYAGIVDYNIIGWLQKNKDP
  LNETVVGLYQKSSLKLLSTLFANYAGADAPIEKGKGKAKKGSSFQTVSALHRENLNKLMT
  NLRSTHPHFVRCIIPNETKSPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDFRQ
  RYRILNPAAIPEGQFIDSRKGAEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRDER
  LSRIITRIQAQSRGVLARMEYKKLLERRDSLLVIQWNIRAFMGVKNWPWMKLYFKIKPLL
  KSAEREKEMASMKEEFTRLKEALEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNLAD
  AEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKRDIDDLELT
  LAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQAEEDKVNTL
  TKAKVKLEQQVDDLEGSLEQEKKVRMDLERAKRKLEGDLKLTQESIMDLENDKQQLDERL
  KKKDFELNALNARIEDEQALGSQLQKKLKELQARIEELEEELEAERTARAKVEKLRSDLS
  RELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHADSV
  AELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKMCRTLEDQMNEHR
  SKAEETQRSVNDLTSQRAKLQTENGELSRQLDEKEALISQLTRGKLTYTQQLEDLKRQLE
  EEVKAKNALAHALQSARHDCDLLREQYEEETEAKAELQRVLSKANSEVAQWRTKYETDAI
  QRTEELEEAKKKLAQRLQEAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAAAA
  ALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETFKR
  ENKNLQEEISDLTEQLGSSGKTIHELEKVRKQLEAEKMELQSALEEAEASLEHEEGKILR
  AQLEFNQIKAEIERKLAEKDEEMEQAKRNHLRVVDSLQTSLDAETRSRNEALRVKKKMEG
  DLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRNNL
  LQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMDADLSQLQTE
  VEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLDEA
  EQIALKGGKKQLQKLEARVRELENELEAEQKRNAESVKGMRKSERRIKELTYQTEEDRKN
  LLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVNKL
  RAKSRDIGTKGLNEE

• Sequence length: 1935