Project 3 > Mutation Database > MYBPC3 > MYBPC3 mutations

Disease-causing mutations in the human cardiac Myosin-Binding Protein C gene

• 149 hypertrophic cardiomyopathy mutations
• 1 dilated cardiomyopathy mutations
• 12 variants of uncertain effect
• 18 polymorphisms

A note on exon numbering in MYBPC3: Literature reports of intronic mutations in MYBPC3 regrettably use two different exon numbering schemes, the Niimura et al. sequence (U91629) and the Carrier et al. sequence (Y10129). The Niimura sequence, which this mutation database uses as its standard, presumes the existence of an untranslated "exon 1", hence the translation start codon is found in "exon 2" under this numbering scheme. The Carrier sequence presumes that translation starts from "exon 1". Therefore, the names of mutations that incorporate intron numbers (e.g., IVS2-1G>A) may differ by 1 depending on the genomic sequence version used by researcher who reports the mutation. Mutation names below are consistent with the Niimura numbering scheme, but may not be exactly the same as they appeared in their original published reports.

dilated cardiomyopathy mutations

Mutation	Disease	position in U91629.1	UCSC hg17 position	exon/intron
Asn948Thr	DCM	18545	47313231	28

variants of uncertain effect

	Disease	position in U91629.1	UCSC hg17 position	exon/intron
Arg273His	uncertain	5820	47325987	8
Arg326Gln	uncertain	7360	47324447	13
Asp605Asn	uncertain	12428	47319349	20
Asp745Gly	uncertain	15056	47316721	24
Arg820Gln	uncertain	16115	47315661	26
Ala833Thr	uncertain	16153	47315623	26
Arg834Trp	uncertain	16156	47315620	26
Ala851Val	uncertain	16208	47315568	26
Gln998Glu	uncertain	19724	47312051	29
Ile1131Thr	uncertain	20736	47311039	32
IVS33-41del25nt	uncertain	21348..21372	47310426..47310402	33

polymorphisms

Variant	Disease	position in U91629.1	UCSC hg17 position	exon/intron
Glu70ter	none	2359	47329450	3
Pro147Leu	none	3602	47328206	5
Val158Met	none	3634	47328174	5
Val189Ile	none	3817	47327990	6
Ser236Gly	none	5190	47326617	7
Asp248Glu	none	5228	47326579	7
Arg281Gln	none	6020	47325787	9
Arg382Trp	none	10078	47321698	14
Leu383Val	none	10081	47321695	14
Ala522Thr	none	11011	47320765	18
Leu545Met	none	11501	47320275	19
Thr688Lys	none	13995	47317782	22
Leu804Met	none	15956	47315820	25
Ala833Val	none	16154	47315622	26
Val896Met	none	17721	47314055	27
Arg1002Trp	none	19905	47311870	30
Arg1048Cys	none	20043	47311732	30
Arg1138His	none	20757	47311018	32

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Last modified: April 24, 2006