Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Pro102Leu (p.P102L)
(
ENST00000457586.2,
ENST00000430350.2,
ENST00000379440.9,
ENST00000424424.2 )
PRNP p.Glu200Lys (p.E200K) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 )
PRNP p.Pro102Leu (p.P102L) ( ENST00000379440.9, ENST00000457586.2, ENST00000430350.2, ENST00000424424.2 )
PRNP p.Glu200Lys (p.E200K) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- Gerstmann-Straussler-Scheinker Disease
- Source Database
- DisGeNET
- Description
- The stability properties of the P102L variant were indistinguishable from those of wild-type PrP, whereas the E200K mutation resulted in a very small destabilization of the protein.
- Pubmed
- 9813003
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.600051301892636
- Year of publication
- 1998
Drugs