Project 3 > Mutation Database > TNNT2 > TNNT2 mutations

Disease-causing mutations in the human cardiac Troponin T gene

• 31 hypertrophic cardiomyopathy mutations
• 6 dilated cardiomyopathy mutations
• 1 variants of uncertain effect
• 5 polymorphisms

dilated cardiomyopathy mutations

Mutation	Disease	position in tnnt2_CG.seq	UCSC hg17 position	exon/intron
Arg113Trp	DCM	8834	198066020	9
Arg141Trp	DCM	9733	198065121	10
Ala172Ser	DCM	10717	198064137	11
Arg205Leu	DCM	12081	198062773	13
Lys210del	DCM	12096..12098	198062758..198062756	13
Asp270Asn	DCM	14433	198060421	15

variants of uncertain effect

	Disease	position in tnnt2_CG.seq	UCSC hg17 position	exon/intron
IVS11-1G>A	uncertain	11674	198063180

polymorphisms

Variant	Disease	position in tnnt2_CG.seq	UCSC hg17 position	exon/intron
Arg129Lys	none	9698	198065156	10
Gln228Glu	none	12149		13
Ser239Thr	none	12726	198062128	14
Lys253Arg	none	12768	198062086	14
Asn269Tyr	none	14430	198060424	15

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Last modified: April 24, 2006