Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Ala117Val (p.A117V)
(
ENST00000379440.9,
ENST00000424424.2,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Ala117Val (p.A117V) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- Creutzfeldt-Jakob disease
- Source Database
- DisGeNET
- Description
- The biophysical properties of PrP from Tg(A116V) mice and human GSS(A117V) revealed a similarly low fraction of insoluble PrP and a weakly protease-resistant approximately 13 kDa midspan PrP fragment, not observed in CJD.
- Pubmed
- 19675240
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.858675488785102
- Year of publication
- 2009
Drugs