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1 protein found in SwissVar (21 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 cardiomyopathy, familial hypertrophic 2 p.Ala38Val
p.Phe80Leu
p.Ile89Asn
p.Arg102Leu
p.Arg102Gln
p.Arg102Trp
p.Arg104Leu
p.Ala114Val
p.Phe120Ile
p.Phe120Val
p.Arg140Cys
p.Glu173Lys
p.Ser189Phe
p.Glu254Asp
p.Asn281Ile
p.Arg288Cys
p.Arg288Pro
p.Arg296Cys


















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



P45379 TNNT2_HUMAN cardiomyopathy, familial restrictive 3