General Information:

Id: 6,645 (click here to show other Interactions for entry)
Mammalia
Reference: Goedert M(2015) NEURODEGENERATION. Alzheimers and Parkinsons diseases: The prion concept in relation to assembled Abeta, tau, and alpha-synuclein Science 349 [PMID: 26250687]

Interaction Information:

Comment Missense mutations, truncation mutations, and changes in the numbers of octapeptide repeats in PRNP, the prion protein gene, cause dominantly inherited forms of CJD, fatal familial insomnia and GSS disease. Thirty-three missense mutations and six truncation mutations are listed. The methionine/valine polymorphism at codon 129 is important. In human prion diseases with mutations P102L, P105L, P105S, A117V, D178N, H187R, T188R, F198S, E200K, D202N, Q217R, Y218N, Y226X, and Q227X, the sequence was valine at codon 129 of the mutant allele. In many cases with mutations P102L, D178N and E200K, the amino acid at codon 129 of the mutant allele was methionine.
Formal Description
Interaction-ID: 63906

gene/protein mutant

PRNP-p.G131V

decreases_activity of

gene/protein

PRNP

Drugbank entries Show/Hide entries for PRNP