Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Phe198Ser (p.F198S)
(
ENST00000379440.9,
ENST00000424424.2,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Glu200Lys (p.E200K) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Phe198Ser (p.F198S) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Glu200Lys (p.E200K) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- Gerstmann-Straussler-Scheinker Disease
- Source Database
- DisGeNET
- Description
- The F198S and E200K variants of PrP(23-231) differed in Cu(II) binding from the wild-type mPrP(23-231).
- Pubmed
- 12609901
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.600051301892636
- Year of publication
- 2003
Drugs