PARK2 S167N - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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PARK2 S167N

(PARK2 Ser167Asn)


You are viewing an old version of this page that was saved on June 22, 2011 at 10:24am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr6:162622197: 4.1% (436/10758) in EVS
  • T @ chr6:162542186: 11.7% (15/128) in GET-Evidence
  • Frequency shown in summary reports: 4.1% (436/10758)

Publications
 

Genomes
 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr6:162622197

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr6:162542187

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr6:162542187

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr6:162542187

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr6:162542187

 

GS18555 - var-GS18555-1100-36-ASM
hom T @ chr6:162542187

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr6:162542187

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr6:162542187

 

GS18947 - var-GS18947-1100-36-ASM
hom T @ chr6:162542187

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr6:162542187

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr6:162542187

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr6:162542187

 

NA18517

 

NA18555

 

NA18956

 

snp-1

 

Deleted in this revision:

snp-1

 

Other external references
 

    dbSNP
  • rs1801474
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (35 hits -- see all)
  • Parkinson Disease Knowledgebase
    ... these duplications do not necessarily interrupt the open reading frame of PARK2 ... that in control samples, only PARK2 duplications and not deletions have been ...
    datam.i2r.a-star.edu.sg/mdpd/detail.php?symbol=PARK2&...
  • HUGO HGM2004 - Presentation 62 - PARK2 mutations screening in ...
    The aim of the research was PARK2 mutations and environmental factors studying in ... of shifted exons we have detected S167N in the 4th exon (4%) and D394N ...
    hgm2004.hgu.mrc.ac.uk/Abstracts/.../Workshop09/hgm062.html
  • PDGene
    PDGene, a database that aims to provide an unbiased, centralized, publicly available and regularly updated collection of genetic association studies performed on PD ...
    www.pdgene.org/funnel.asp?geneID=16&polyID=88
  • Reference SNP(refSNP) Cluster Report: rs1801474 **clinically ...
    Database of Single Nucleotide Polymorphism ... SEATTLESEQ|PARK2-162542187. rev/B. C/T. 07/10/09. 07/10/09. 131. Genomic. unknown. ss160463044. ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1801474 ...
    www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=rs1801474
  • PLoS ONE: Analysis of Nigerians with Apparently Sporadic ...
    PLoS ONE: an inclusive, peer-reviewed, open-access resource from the PUBLIC LIBRARY OF ... gene encoding parkin (PRKN; MIM #602544; PARK2)[4], the gene encoding PTEN – induced ...
    plosone.org/article/info:doi/10.1371/journal.pone.0003421
  • Analysis of Nigerians with Apparently Sporadic Parkinson ...
    With the exception of the V380L and S167N polymorphisms, no other missense homozygous variants were found. ... PARK2 gene variants in PD cases and controls ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2559870
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • Type I- 97%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... CK1 (0.632) Con1-, abolishes the glycosylation site at position 238 8554050 NME1 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_97.txt
  • Parkinson Disease Knowledgebase
    PARK2. Variant (mutation/polymorphism) information mined from UniProt : ... S167N (Polymorphism) [ VAR_019742 ] S167N (Polymorphism) M192V (Disease) [ VAR_019743 ] ...
    datam.i2r.a-star.edu.sg/mdpd/detail.php?symbol=PARK2&sec=2
  • Parkinson's Disease RSS Page 28
    To assess the association of IVS9 g > a, S167N and V380L with the risk of PD, we ... Missense mutations in park2, encoding the parkin protein, account for ...
    medworm.com/rss/search.php?qu="Parkinson's"+Parkinsons+...

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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