Annotation Detail
Information
- Associated Genes
- TNNI3
- Associated Variants
-
TNNI3 p.Lys206Glu (p.K206E)
(
ENST00000588882.1,
ENST00000344887.10,
ENST00000665070.1,
ENST00000714236.1,
ENST00000714237.1,
ENST00000714238.1,
ENST00000714240.1 )
TNNI3 p.Lys206Gln (p.K206Q) ( ENST00000588882.1, ENST00000344887.10, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1, ENST00000714240.1 )
TNNI3 p.Gly203Ser (p.G203S) ( ENST00000344887.10, ENST00000588882.1, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1, ENST00000714240.1 )
TNNI3 p.Lys206Glu (p.K206E) ( ENST00000344887.10, ENST00000588882.1, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1, ENST00000714240.1 )
TNNI3 p.Lys206Gln (p.K206Q) ( ENST00000344887.10, ENST00000588882.1, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1, ENST00000714240.1 )
TNNI3 p.Gly203Ser (p.G203S) ( ENST00000344887.10, ENST00000588882.1, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1, ENST00000714240.1 ) - Associated Disease
- Cardiomyopathy, Hypertrophic, Familial
- Source Database
- DisGeNET
- Description
- Phosphorylation of human cardiac troponin I G203S and K206Q linked to familial hypertrophic cardiomyopathy affects actomyosin interaction in different ways.
- Pubmed
- 14596793
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.256521735413434
- Year of publication
- 2003
Drugs