Project 3 > Mutation Database > MYH7 > MYH7 mutations

Disease-causing mutations in the human beta-cardiac Myosin Heavy Chain gene

• 194 hypertrophic cardiomyopathy mutations
• 13 dilated cardiomyopathy mutations
• 7 other mutations
• 7 variants of uncertain effect
• 15 polymorphisms

dilated cardiomyopathy mutations

Mutation	Disease	position in M57965.1	UCSC hg17 position	exon/intron
Ile201Thr	DCM	7652	22970847	7
Ala223Thr	DCM	7799	22970699	8
Thr412Asn	DCM	10191	22968300	13
Arg442His	DCM, endocardial fibroelastosis	10405	22968086	14
Ser532Pro	DCM	11562	22966928	16
Ala550Val	DCM	11617	22966873	16
Ser642Leu	DCM	12164	22966320	17
Phe764Leu	DCM	14020	22964462	21
Thr1019Asn	DCM	15842	22962639	24
Arg1193Ser	DCM	19433	22959043	27
Glu1426Lys	DCM	21847	22956629	31
Arg1500Trp	DCM	22253	22956223	32
Arg1634Cys	DCM	23370	22955106	34

other mutations

Mutation	Disease	position in M57965.1	UCSC hg17 position	exon/intron
Arg1500Pro	Laing distal myopathy	22254	22956222	32
Lys1617del	Laing distal myopathy	23319..23321	22955157..22955155	34
Ala1663Pro	Laing distal myopathy	23628	22954848	35
Leu1706Pro	Laing distal myopathy	23758	22954718	35
Lys1729del	Laing distal myopathy	23948..23950	22954528..22954526	36
Arg1845Trp	Skeletal myopathy/storage	24406	22954070	37
His1901Leu	hyaline body myopathy	25582	22952896	39

variants of uncertain effect

	Disease	position in M57965.1	UCSC hg17 position	exon/intron
Glu779ter	uncertain	14063	22964419	21
Val878Ala	uncertain	14617	22963864	22
Glu935Lys	uncertain	15406	22963075	23
Gln1334ter	uncertain	21048	22957428	30
Arg1475Cys	uncertain	22178	22956298	32

polymorphisms

Variant	Disease	position in M57965.1	UCSC hg17 position	exon/intron
Asp3Ala	none	5728	22972774	3
Arg54ter	none	5880	22972622	3
Asp107Glu	none	6344	22972157	4
Met349Thr	none	9584	22968916	12
Ala393Thr	none	10133	22968358	13
Glu466Gln	none	10476	22968015	14
Lys502Asn	none	10870	22967621	15
Arg706Ser	none	13425	22965057	19
Arg858Gly	none	14556	22963925	22
Ile909Val	none	15328	22963153	23
Ala1124Ser	none	19226	22959250	27
Ser1491Cys	none	22227	22956249	32
Val1691Met	none	23712	22954764	35
Arg1846Gly	none	24409	22954067	37
Lys1919Asn	none	25637	22952841	39

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Last modified: April 24, 2006