KEGG   VARIANT: 7139v2
Entry
7139v2                      Variant                                
Name
TNNT2 mutation
Type
Gain of function
Gene
TNNT2  troponin T2, cardiac type [KO:K12045]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191045
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00292  Hypertrophic cardiomyopathy
H01219  Restrictive cardiomyopathy
Reference
  Authors
Ezekian JE, Clippinger SR, Garcia JM, Yang Q, Denfield S, Jeewa A, Dreyer WJ, Zou W, Fan Y, Allen HD, Kim JJ, Greenberg MJ, Landstrom AP
  Title
Variant R94C in TNNT2-Encoded Troponin T Predisposes to Pediatric Restrictive Cardiomyopathy and Sudden Death Through Impaired Thin Filament Relaxation  Resulting in Myocardial Diastolic Dysfunction.
  Journal
J Am Heart Assoc 9:e015111 (2020)
DOI:10.1161/JAHA.119.015111
Reference
  Authors
Pettinato AM, Ladha FA, Mellert DJ, Legere N, Cohn R, Romano R, Thakar K, Chen YS, Hinson JT
  Title
Development of a Cardiac Sarcomere Functional Genomics Platform to Enable Scalable Interrogation of Human TNNT2 Variants.
  Journal
Circulation 142:2262-2275 (2020)
DOI:10.1161/CIRCULATIONAHA.120.047999
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