Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
GPI p.Thr259Met (p.T259M)
(
ENST00000356487.11,
ENST00000415930.8,
ENST00000588991.7 )
PRNP p.Met232Arg (p.M232R) ( ENST00000424424.2, ENST00000379440.9, ENST00000430350.2, ENST00000457586.2 )
GPI p.Thr259Met (p.T259M) ( ENST00000356487.11, ENST00000415930.8, ENST00000588991.7 )
PRNP p.Met232Arg (p.M232R) ( ENST00000430350.2, ENST00000379440.9, ENST00000424424.2, ENST00000457586.2 ) - Associated Disease
- Creutzfeldt-Jakob Disease, Familial
- Source Database
- DisGeNET
- Description
- Point mutations M232R (PrP(232R)), M232T (PrP(232T)), and P238S (PrP(238S)) in the glycosylphosphatidylinositol signal peptide (GPI-SP) of the prion protein (PrP(C)) segregate with familial Creutzfeldt-Jakob disease (CJD).
- Pubmed
- 18325785
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0122148842436137
- Year of publication
- 2008
Drugs