rs267606980
This is a variant in the PRNP gene that changes a glycine to an valine.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶A new inherited prion disease (PrP‐P105L mutation) showing spastic paraparesisFunctionalTetsuyuki Kitamoto et al.(1993)· Annals of Neurology
This PhD thesis examines host range and strain characteristics of chronic wasting disease (CWD) in cervids through experimental transmission to Syrian Golden hamsters. The study demonstrates that CWD isolates from deer with different prion protein (PrP) genotypes (wild-type, H95, S96) exhibit variable infectivity in hamsters and mice, with PrP polymorphisms at codons 95 and 96 affecting host range. The H95 variant produces a novel strain (H95+) with altered transmission properties compared to the parent Wisc-1 strain, indicating CWD strain diversity correlates with cervid species, geographic location, and PrP genotype.
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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