Annotation Detail
Information
- Associated Genes
- TGFBI
- Associated Variants
-
TGFBI p.Arg555Trp (p.R555W)
(
ENST00000442011.7 )
TGFBI p.Arg555Trp (p.R555W) ( ENST00000442011.7 ) - Associated Disease
- Granular Dystrophy, Corneal
- Source Database
- DisGeNET
- Description
- We show here that the Arg555Trp mutant of the fourth fasciclin 1 (FAS1-4) domain of the protein (TGFBIp/keratoepithelin/βig-h3), associated with granular corneal dystrophy type 1, is significantly less susceptible to proteolysis by thermolysin and trypsin than the WT domain.
- Pubmed
- 24129074
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0075244275481278
- Year of publication
- 2013
Drugs