KEGG   VARIANT: 7136v1
Entry
7136v1                      Variant                                
Name
TNNI2 gain of function mutation
Type
Gain of function
Gene
TNNI2  troponin I2, fast skeletal type [KO:K12043]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191043
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00811  Distal arthrogryposis
Reference
  Authors
Robinson P, Lipscomb S, Preston LC, Altin E, Watkins H, Ashley CC, Redwood CS
  Title
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function.
  Journal
FASEB J 21:896-905 (2007)
DOI:10.1096/fj.06-6899com
Reference
  Authors
Zhu X, Wang F, Zhao Y, Yang P, Chen J, Sun H, Liu L, Li W, Pan L, Guo Y, Kou Z, Zhang Y, Zhou C, He J, Zhang X, Li J, Han W, Li J, Liu G, Gao S, Yang Z
  Title
A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.
  Journal
PLoS Genet 10:e1004589 (2014)
DOI:10.1371/journal.pgen.1004589
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