KEGG   VARIANT: 7139v1
Entry
7139v1                      Variant                                
Name
TNNT2 mutation
Type
Loss 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
H00294  Dilated cardiomyopathy
H01219  Restrictive cardiomyopathy
Reference
PMID:18612386
  Authors
Ahmad F, Banerjee SK, Lage ML, Huang XN, Smith SH, Saba S, Rager J, Conner DA, Janczewski AM, Tobita K, Tinney JP, Moskowitz IP, Perez-Atayde AR, Keller BB, Mathier MA, Shroff SG, Seidman CE, Seidman JG
  Title
The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy.
  Journal
PLoS One 3:e2642 (2008)
DOI:10.1371/journal.pone.0002642
Reference
PMID:33025817
  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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