{{Rsnum
|rsid=1799990
|Gene=PRNP
|Chromosome=20
|position=4699605
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.2631
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=PRNP
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 44.2 | 42.5 | 13.3
| HCB | 93.4 | 5.9 | 0.7
| JPT | 96.5 | 3.5 | 0.0
| YRI | 48.3 | 41.5 | 10.2
| ASW | 35.1 | 45.6 | 19.3
| CHB | 93.4 | 5.9 | 0.7
| CHD | 98.2 | 1.8 | 0.0
| GIH | 58.4 | 36.6 | 5.0
| LWK | 43.1 | 51.4 | 5.5
| MEX | 34.5 | 50.0 | 15.5
| MKK | 50.0 | 30.8 | 19.2
| TSI | 41.6 | 43.6 | 14.9
| HapMapRevision=28
}}[[rs1799990]], also known as Met129Val or M129V, is a SNP in the prion protein [[PRNP]] gene. The more common [[rs1799990]](A) allele encodes the Met (methionine).

Historically, since 1991 this SNP has been associated with risk for sporadic [[Creutzfeldt-Jakob disease]], with homozygotes of both types apparently at increased risk compared to heterozygotes.{{PMID|1677164}}

More recently, this SNP has been related to long-term [[memory]] with (A;A) and (A;G) individuals recalling 17% more words than (G;G) individuals at 24h following learning.{{PMID|15987701}}

{{PMID|18423780}} A further study of 12 individuals of each of the 3 possible genotypes showed that at both 30 minutes and 24 hour time lags, correlations between retrieval-related brain activity and retrieval success were negative for (G;) homozygotes (the more activity, the worse retrieval success), while correlations showed no significance or were positive for (A) homozygotes and heterozygotes. These findings suggest that the [[rs1799990]] SNP affects neural plasticity following learning at a time-scale of minutes to hours.

{{PMID|16315279}} [[rs1799990]](A;G) heterozygotes were significantly overrepresented (age-adjusted odds ratio, 8.47) in 39 individuals with [[primary progressive aphasia]] (PPA), a rare condition of unknown cause, compared to 400+ controls.

{{omim
|desc=PRION DISEASE, SUSCEPTIBILITY TO
|id=176640
|rsnum=1799990
|variant=0005
}}
{{ neighbor
| rsid = 16990018
| distance = 127
}}

{{Venter SNP
|rsid=1799990
|allele=G
|frequency=0.35
|uid=1103643146185
|type=heterozygous_SNP
|hugo=PRNP
|ensembl gene=ENSG00000171867
|ensembl transcript=ENST00000379436
|sift=AFFECT FUNCTION
|disease=Defects in PRNP are the cause of prion disease with protracted course (MIM:606688); an autosomal dominant presenile dementia with a rapidly progressive and protracted clinical course. The dementia was characterized clinically by frontotemporal features, including early personality changes. Some patients had memory loss, several showed aggressiveness, hyperorality and verbal stereotypy, others had parkinsonian symptoms.
}}

{{PMID Auto GWAS
|PMID=19081515
|Trait=Creutzfeldt-Jakob disease
|Title=Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study
|RiskAllele=A
|Pval=2E-21
|OR=NR
|ORtxt=NR
|OA=1
}}

{{PharmGKB
|RSID=rs1799990
|Name_s=
|Gene_s=PRNP
|Feature=
|Evidence=PubMed ID:19081515; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=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.
|Drugs=
|Drug Classes=
|Diseases=Creutzfeldt-Jakob Syndrome
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740186
}}

{{omim
|id=176640
|rsnum=1799990
|variant=0007
}}

{{PMID Auto
|PMID=22210626
|Title=Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP
|OA=1
}}

{{ClinVar
|rsid=1799990
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=4680251
|CHROM=20
|GMAF=0.2637
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x05036800000015051f130100
|GENEINFO=PRNP:5621
|GENE_NAME=PRNP
|GENE_ID=5621
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000020.10:g.4680251A>G
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1229; 176640.0005; 176640.0007
|CLNSIG=255
|CLNCUI=C0022336; C0206042; C0162534
|CLNDBN=Prion disease, susceptibility to; Alzheimer disease, early-onset, susceptibility to; Aphasia, primary progressive, susceptibility to; Jakob-Creutzfeldt disease; Fatal familial insomnia; Genetic prion diseases
|Disease=Prion disease; Alzheimer disease; Aphasia; Jakob-Creutzfeldt disease; Fatal familial insomnia; Genetic prion diseases
|CLNACC=RCV000014331.3; RCV000014332.3; RCV000014333.3; RCV000014336.22; RCV000014337.23; RCV000020244.1
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.7369; 0.2631
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; GeneReviews:MedGen
|CLNDSDBID=NBK1229:C0022336:123400:204:792004; NBK1229:C0206042:600072:466:83157008; NBK1229:C0162534
|COMMON=1
}}

{{PMID Auto
|PMID=16023289
|Title=Genetic influences on oxidative stress and their association with normal cognitive ageing.
}}

{{PMID Auto
|PMID=17202849
|Title=No association of prion protein gene polymorphisms with Alzheimer's disease in Korean population.
}}

{{PMID Auto
|PMID=18813964
|Title=Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.
|OA=1
}}

{{PMID Auto
|PMID=18830724
|Title=Assessment of Alzheimer's disease case-control associations using family-based methods.
|OA=1
}}

{{PMID Auto
|PMID=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|OA=1
}}

{{PMID Auto
|PMID=20574532
|Title=Intermediate phenotypes identify divergent pathways to Alzheimer's disease.
|OA=1
}}

{{PMID Auto
|PMID=1675319
|Title=Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease.
}}

{{PMID Auto
|PMID=1682813
|Title=CJD discrepancy.
}}

{{PMID Auto
|PMID=7845623
|Title=Neuropathological phenotype and 'prion protein' genotype correlation in sporadic Creutzfeldt-Jakob disease.
}}

{{PMID Auto
|PMID=9643750
|Title=Genotype at codon 129 and susceptibility to Creutzfeldt-Jakob disease.
}}

{{PMID Auto
|PMID=12867116
|Title=Distribution of codon 129 genotype in human growth hormone-treated CJD patients in France and the UK.
}}

{{PMID Auto
|PMID=14970845
|Title=Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease.
}}

{{GET Evidence
|gene=PRNP
|aa_change=Met129Val
|aa_change_short=M129V
|impact=protective
|qualified_impact=Low clinical importance,  protective
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs1799990
|overall_frequency_n=3653
|overall_frequency_d=10758
|overall_frequency=0.339561
|n_genomes=24
|n_genomes_annotated=0
|n_haplomes=28
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|qualityscore_severity=4
|qualityscore_treatability=1
|gene_in_genetests=Y
|in_omim=Y
|in_gwas=Y
|in_pharmgkb=Y
|pph2_score=0.628
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=4
|webscore=Y
|n_web_uneval=9
|variant_evidence=0
|clinical_importance=2
|summary_short=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.  
}}

{{PMID Auto
|PMID=23399523
|Title=The association between the methionine/valine (M/V) polymorphism (rs1799990) in the PRNP gene and the risk of Alzheimer disease: an update by meta-analysis.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}