Curation:

Currentness:

PRNP M129V

(PRNP Met129Val)

See also: PRNP M129M

This variant is associated with some protective effects for prion disease — individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru.

Variant evidence
Computational	3	PolyPhen: Possibly damaging 0.583 SIFT: Affect protein function 0.01 GVGD: GV 0.00; GD 20.52; Class C15 Variant Effect Predictor (Ensembl ): SIFT=deleterious(0.01); PolyPhen=benign(0.019); Condel=deleterious(0.900) Mutation Tasting Prediction: Polymorphism, P value: 0. 768693; protein features (might be) affected (aa 23-230 REGION Interaction with GRB2, ERI3 and SYN1 (By similarity) gets lost)

Functional	-

Case/Control	5	High significance evidence See 19081515.
		High significance evidence See 19081515.
Familial	-


Clinical importance
Severity	4

Treatability	1

Penetrance		Prion diseases are extremely rare
		Prion diseases are extremely rare

Low clinical importance, protective

(The "low clinical importance, " qualifier is assigned automatically based on the above evidence and importance scores.)

other

Allele frequency

G @ chr20:4680251: 34.0% (3653/10758) in EVS
G @ chr20:4628250: 24.2% (31/128) in GET-Evidence
Frequency shown in summary reports: 34.0% (3653/10758)

Publications

Found no correlation between codon 129 and MSA.

Homozygosity for this variant was associated with a significant protective effect for Creutzfeldt-Jakob (p = 2.7e-4 in replication group). Heterozygous version (and not homozygous) of this variant was also found to be protective against kuru by, it is theorized, extending incubation time (2.2e-9). In general, this GWAS study “confirms the strong association of PRNP codon 129 (rs1799990) across acquired and sporadic prion diseases as the outstanding genetic risk factor in human prion disease”.

Genomes

Other external references

dbSNP

rs1799990
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the PRNP gene
Familial Creutzfeldt-Jakob Disease
Fatal Familial Insomnia
Genetic Prion Diseases
Gerstmann-Straussler-Scheinker Disease
Huntington Disease-Like 1
5-Oxoprolinuria
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRNP

GWAS

Creutzfeldt-Jakob disease (rs1799990-A)
Mead 11-Dec-08 in Lancet Neurol
OR or beta: NR NR
p-value: 2.00E-21
Initial sample: 117 CJD cases, 3,083 controls
Replication sample: 506 sCJD cases, 28 iCJD cases, 151 Kuru cases, 125 Kuru-resistant cases, up to 1,137 controls
www.ncbi.nlm.nih.gov/pubmed/19081515

OMIM

Prion disease, susceptibility to
www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640
Alzheimer disease, early-onset, susceptibility to, included
www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640
Aphasia, primary progressive, susceptibility to, included
www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176640

PharmGKB

[Creutzfeldt-Jakob Syndrome]
GWAS results: Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study. (Initial Sample Size: 117 CJD cases, 3,083 controls; Replication Sample Size: 506 sCJD cases, 28 iCJD cases, 151 Kuru cases, 125 Kuru-resistant cases, up to 1,137 controls); (Region: 20p13; Reported Gene(s): PRNP; Risk Allele: rs1799990-A); (p-value= 2E-21).This variant is associated with Creutzfeldt-Jakob disease.
www.ncbi.nlm.nih.gov/pubmed/19081515; Web Resource:http://www.genome.gov/gwastudie

PolyPhen-2

Score: 0.628 (possibly damaging)

Web search results (745 hits -- see all)

PRNP M129V homozygosity in multiple system atrophy vs ...
PRNP M129V homozygosity in multiple system atrophy vs. Parkinson's disease. ... the M129V polymorphism within the prion protein gene (PRNP), a known ...
www.ncbi.nlm.nih.gov/pubmed/18236005
RePub: Polymorphisms in the prion protein gene and in the ...
The prion protein gene (PRNP) plays a central role in the origin of Creutzfeldt ... For SNP 1368 and PRNP M129V, we found significant evidence for linkage disequilibrium. ...
repub.eur.nl/resource/publication:5883/index.html
Sporadic—but Not Variant—Creutzfeldt-Jakob Disease Is ...
tein–gene (PRNP) polymorphism (encoding either methionine or valine at codon 129) ... PRNP M129V, an SNP that is 31 bp 5 to PRNP exon. 2, was designated " ...
sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
PRNP - prion protein - Genetics Home Reference
The PRNP gene is also known by other names, listed below. What is the normal function of ... The PRNP gene provides instructions for making a protein called the ...
ghr.nlm.nih.gov/gene=prnp
Sporadic—but Not Variant—Creutzfeldt-Jakob Disease Is ...
We have analyzed the PRNP locus for such tightly linked susceptibility factors. ... ORF polymorphism PRNP M129V, an SNP that is 31 bp 5′ to PRNP exon 2, was ...
www.ncbi.nlm.nih.gov/pmc/articles/PMC1235534/?tool=pubmed
Rapid Genotyping of the M129V Polymorphism of Prion Protein ...
Melting curves analysis of the three possible genotypes of the PRNP codon 129 polymorphism. ... curve analysis are ideal methods to study the PRNP M129V polymorphism. ...
www.clinchem.org/cgi/content/full/47/10/1874
Polymorphisms in the prion protein gene and in the doppel ...
The prion protein gene (PRNP) plays a central role in the origin of Creutzfeldt ... For SNP 1368 and PRNP M129V, we found significant evidence for linkage disequilibrium. ...
tripdatabase.com/doc/449880-Polymorphisms-in-the-prion-pr...
The prion gene is associated with human long-term memory ...
Among the examined PRNP SNPs, the common Met129Val polymorphism yielded the ... to valine substitution at codon 129 of PRNP (M129V) is caused by a common A to G ...
hmg.oxfordjournals.org/cgi/content/full/14/15/2241
FuturePundit: Cannibals Differ In Cognitive Ability To ...
Here's an excerpt from the abstract of a research paper on PRNP genetic variations and cognitve function. ... We know that the M129V variation occurs at different frequencies in ...
www.futurepundit.com/archives/001972.html
The prion gene is associated with human long-term memory
analysis revealed that the observed association is caused by the M129V SNP of PRNP. ... The methionine to valine substitution at codon 129 of PRNP (M129V) is ...
hmg.oxfordjournals.org/cgi/reprint/ddi228v1.pdf

Other in silico analyses

NBLOSUM100 score = 0
GET-Evidence autoscore = 4

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_H05 from PGP sample 10971581 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C07 from PGP sample 74521372 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C05 from PGP sample 42408046 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B03 from PGP sample 14427241 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_F02 from PGP sample 40767107 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_D02 from PGP sample 27316983 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D05 from PGP sample 1205491 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_H01 from PGP sample 94797469 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_F02 from PGP sample 95788191 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D01 from PGP sample 31286272 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B05 from PGP sample 83494370 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B04 from PGP sample 88590671 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_G02 from PGP sample 67180598 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F06 from PGP sample 64191565 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F02 from PGP sample 70008981 view
Nov 29 2012 Genome Importing Robot added hu34D5B9 exome view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_C02 from PGP sample 10366372 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B07 from PGP sample 61499538 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B02 from PGP sample 94378523 view
Oct 17 2012 Leon Peshkin edited article 19081515 summary view
Aug 20 2012 Leon Peshkin edited article 19081515 summary view
Aug 20 2012 Leon Peshkin edited article 18236005 summary view
Mar 5 2012 Genome Importing Robot added CGI sample GS000006909 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000005532 view
Aug 1 2011 Han Luu edited variant summary view
Jun 29 2011 Han Luu edited variant summary view
Jun 23 2011 Genome Importing Robot removed [NA18517] view
Jun 23 2011 Genome Importing Robot removed [NA18507] view
Jun 23 2011 Genome Importing Robot removed [NA12878] view
Jun 22 2011 Genome Importing Robot removed J. Craig Venter view
Jun 22 2011 Genome Importing Robot removed G/aq'o view
Jun 22 2011 Genome Importing Robot removed !Gubi view
Jun 22 2011 Genome Importing Robot removed !Ai view
Jun 22 2011 Genome Importing Robot added PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) view
Jun 7 2011 Han Luu edited variant summary view
Jun 7 2011 Han Luu edited variant summary view
Mar 29 2011 Genome Importing Robot added var-GS20502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19704-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19703-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19701-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19670-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19648-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19026-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19025-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18537-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18517-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06994-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS10851-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18501-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS07357-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18504-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18505-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Sr. view
Dec 6 2010 Genome Importing Robot added hu728FFF build 36 substitution variants view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_B02_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_G01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_C01_200_37 view
Nov 29 2010 Madeleine Ball edited article 19081515 summary view
Nov 29 2010 Madeleine Ball edited variant summary view
Nov 29 2010 Madeleine Ball edited article 19081515 summary view
Nov 29 2010 Madeleine Ball edited variant summary view
Nov 29 2010 Madeleine Ball edited article 19081515 summary view
Nov 29 2010 Madeleine Ball edited variant summary view
Oct 14 2010 Kimberly Robasky edited article 18236005 summary view
Oct 14 2010 Kimberly Robasky edited variant summary view
Oct 14 2010 Kimberly Robasky added article 18236005 view
Oct 14 2010 Kimberly Robasky edited article 19081515 summary view
Oct 14 2010 Kimberly Robasky edited variant summary view
Oct 14 2010 Kimberly Robasky edited article 19081515 summary view
Oct 14 2010 Kimberly Robasky edited variant summary view
May 8 2010 Genome Importing Robot added CGI sample GS00253-DNA_A02_200_37 view
Feb 27 2010 Genome Importing Robot added !Gubi view
Feb 27 2010 Genome Importing Robot added G/aq'o view
Feb 27 2010 Genome Importing Robot added !Ai view
Feb 17 2010 Genome Importing Robot added Henry Louis Gates Sr. view
Jan 12 2010 Alexander Wait Zaranek edited variant summary view
Jan 12 2010 Alexander Wait Zaranek added article 19081515 view
Jan 12 2010 Alexander Wait Zaranek edited variant summary view
Jan 12 2010 Alexander Wait Zaranek edited variant summary view
Jan 5 2010 OMIM Importing Robot edited variant summary view
Dec 27 2009 Genome Importing Robot added J. Craig Venter view
Dec 27 2009 Genome Importing Robot added [NA18507] view
Dec 27 2009 Genome Importing Robot added [NA18517] view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added variant view

PRNP M129V - GET-Evidence

PRNP M129V

Allele frequency

Publications

Genomes

Other external references

Other in silico analyses

Edit history

Gene search

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PRNP M129V - GET-Evidence

PRNP M129V

Allele frequency

Publications

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Genomes

Other external references

Other in silico analyses

Edit history

Gene search

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