KEGG   VARIANT: 7168v2
Entry
7168v2                      Variant                                
Name
TPM1 gain of function mutation
Type
Gain of function
Gene
TPM1  tropomyosin 1 [KO:K10373]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191010
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00292  Hypertrophic cardiomyopathy
Reference
PMID:25548289
  Authors
Gupte TM, Haque F, Gangadharan B, Sunitha MS, Mukherjee S, Anandhan S, Rani DS, Mukundan N, Jambekar A, Thangaraj K, Sowdhamini R, Sommese RF, Nag S, Spudich JA, Mercer JA
  Title
Mechanistic heterogeneity in contractile properties of alpha-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies.
  Journal
J Biol Chem 290:7003-15 (2015)
DOI:10.1074/jbc.M114.596676
LinkDB

DBGET integrated database retrieval system