SWISSVAR

1 protein found in SwissVar (28 variants)

with gene/protein name P45379

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P45379 TNNT2_HUMAN p.Arg139Lys
p.Arg140Lys
p.Ile221Thr
p.Ile231Thr
p.Ser249Thr
p.Lys263Arg
p.Asn279Tyr


1J1DB (211)
1J1DB (221)

1J1DE (253)
1J1DB (269)
P45379 TNNT2_HUMAN cardiomyopathy, familial hypertrophic 2 p.Ala38Val
p.Phe80Leu
p.Ile89Asn
p.Arg102Trp
p.Arg102Leu
p.Arg102Gln
p.Arg104Leu
p.Ala114Val
p.Phe120Ile
p.Phe120Val
p.Arg140Cys
p.Glu173Lys
p.Ser189Phe
p.Glu254Asp
p.Asn281Ile
p.Arg288Cys
p.Arg288Pro
p.Arg296Cys













1J1DB (244)
1J1DB (271)



P45379 TNNT2_HUMAN cardiomyopathy, dilated 1d p.Arg141Trp
p.Arg151Trp
p.Arg215Leu


1J1DE (205)
P45379 TNNT2_HUMAN cardiomyopathy, familial restrictive 3