Disease-causing mutations in TNNI3

Disease-causing mutations in the human cardiac Troponin I gene

**hypertrophic cardiomyopathy mutations**
Mutation	Disease	position in X90780.1	UCSC hg17 position	exon/intron
Arg21Cys	HCM	1742	60360277	3
Arg141Gln	HCM	4682	60357337	7
Leu144Pro	HCM	4691	60357328	7
Arg145Gly	HCM	4693	60357326	7
Arg145Gln	HCM	4694	60357325	7
Ala157Val	HCM	4730	60357289	7
Arg162Trp	HCM	4744	60357275	7
Arg162Gln	HCM	4745	60357274	7
Arg162Pro	HCM	4745	60357274	7
Ser166Phe	HCM	4757	60357262	7
Lys178del	HCM	4792..4794	60357227..60357225	7
Lys183Glu	HCM	4807	60357212	7
Lys183del	HCM	4807..4809	60357212..60357210	7
Arg186Gln	HCM	6449	60355090	8
Ile195Met	HCM	6477	60355062	8
Asp196Asn	HCM	6478	60355061	8
Leu198Val	HCM	6484	60355055	8
Leu198Pro	HCM	6485	60355054	8
Ser199Gly	HCM	6487	60355052	8
Ser199Asn	HCM	6488	60355051	8
Glu202Gly	HCM	6497	60355042	8
Gly203Arg	HCM	6499	60355040	8
Gly203Ser	HCM	6499	60355040	8
Gly203fs	HCM	6499..6531	60355040..60355008	8
Arg204Cys	HCM	6502	60355037	8
Arg204His	HCM	6503	60355036	8
Lys206Gln	HCM	6508	60355031	8

dilated cardiomyopathy mutations
Mutation Disease position in X90780.1 UCSC hg17 position exon/intron

Ala2Val DCM, recessive 1254 60360765 1

**dilated cardiomyopathy mutations**
Mutation	Disease	position in X90780.1	UCSC hg17 position	exon/intron
Ala2Val	DCM, recessive	1254	60360765	1

other mutations
Mutation Disease position in X90780.1 UCSC hg17 position exon/intron

Leu144Gln Restrictive CM 4691 60357328 7
Arg145Trp Restrictive CM 4693 60357326 7
Ala171Thr Restrictive CM 4771 60357248 7
Lys178Glu Restrictive CM 4792 60357227 7
Asp190His Restrictive CM 6460 60355079 8
Arg192His Restrictive CM 6467 60355072 8

**other mutations**
Mutation	Disease	position in X90780.1	UCSC hg17 position	exon/intron
Leu144Gln	Restrictive CM	4691	60357328	7
Arg145Trp	Restrictive CM	4693	60357326	7
Ala171Thr	Restrictive CM	4771	60357248	7
Lys178Glu	Restrictive CM	4792	60357227	7
Asp190His	Restrictive CM	6460	60355079	8
Arg192His	Restrictive CM	6467	60355072	8

variants of uncertain effect
Disease position in X90780.1 UCSC hg17 position exon/intron

Pro82Ser uncertain 2600 60359419 5

**variants of uncertain effect**
	Disease	position in X90780.1	UCSC hg17 position	exon/intron
Pro82Ser	uncertain	2600	60359419	5

polymorphisms
Variant Disease position in X90780.1 UCSC hg17 position exon/intron

Lys58Asn none 2530 60359489 5
Arg74Ser none 2576 60359443 5
Arg79Cys none 2591 60359428 5
Pro82Thr none 2600 60359419 5
Leu85Met none 2609 60359410 5
Ala86Asp none 2613 60359406 5

**polymorphisms**
Variant	Disease	position in X90780.1	UCSC hg17 position	exon/intron
Lys58Asn	none	2530	60359489	5
Arg74Ser	none	2576	60359443	5
Arg79Cys	none	2591	60359428	5
Pro82Thr	none	2600	60359419	5
Leu85Met	none	2609	60359410	5
Ala86Asp	none	2613	60359406	5

Last modified: April 24, 2006