KEGG   VARIANT: 7134v2
Entry
7134v2                      Variant                                
Name
TNNC1 mutation
Type
Gain of function
Gene
TNNC1  troponin C1, slow skeletal and cardiac type [KO:K05865]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191040
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00292  Hypertrophic cardiomyopathy
Reference
  Authors
Johnston JR, Landim-Vieira M, Marques MA, de Oliveira GAP, Gonzalez-Martinez D, Moraes AH, He H, Iqbal A, Wilnai Y, Birk E, Zucker N, Silva JL, Chase PB, Pinto JR
  Title
The intrinsically disordered C terminus of troponin T binds to troponin C to modulate myocardial force generation.
  Journal
J Biol Chem 294:20054-20069 (2019)
DOI:10.1074/jbc.RA119.011177
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