Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Phe198Ser (p.F198S)
(
ENST00000379440.9,
ENST00000424424.2,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Phe198Ser (p.F198S) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- Prion Diseases
- Source Database
- DisGeNET
- Description
- Our findings suggest that brain extracts from GSS F198S disease contain 3 prominent nonglycosylated PK-resistant PrP fragments forming a pattern not previously described in other prion diseases, which may in part explain the pathology of this GSS disease variant.
- Pubmed
- 8939199
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.481088376032419
- Year of publication
- 1996
Drugs