rs11538758
This is a variant in the PRNP gene that changes a proline to an leucine.
▶ClinVar annotation
Gerstmann-Straussler-Scheinker syndrome (GSD); Inborn genetic diseases
View on ClinVar →▶Research that mentions this SNP (1)
▶PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion UnitCase reportN=3,664Jon A. Beck et al.(2010)· Human Mutation
This study presents a comprehensive analysis of PRNP gene mutations from 19 years of diagnostic sequencing of 3,664 samples at the MRC Prion Unit. The authors identified 14 pathogenic missense mutations and several octapeptide repeat insertions/deletions, including novel variants (G54S, D167N, V209M, Q212PP) and rare mutations (P105L, G114V) with detailed clinical phenotypes. Population screening of 1,007 healthy controls from 51 diverse populations revealed codon 129 polymorphism frequencies and confirmed several variants (G54S, G142S, N171S) as non-pathogenic polymorphisms, while absence from all tested populations supports pathogenicity of G114V and D167N.
About PRNP
The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
View all PRNP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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