PCSK1 Q665E - GET-Evidence

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

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Curation:
Currentness:

PCSK1 Q665E

(PCSK1 Gln665Glu)


Short summary

 

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

Impact

Insufficiently evaluated pharmacogenetic

(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

  • C @ chr5:95728974: 24.7% (2659/10758) in EVS
  • C @ chr5:95754729: 21.1% (27/128) in GET-Evidence
  • Frequency shown in summary reports: 24.7% (2659/10758)

Publications
 

Benzinou M, Creemers JW, Choquet H, Lobbens S, Dina C, Durand E, Guerardel A, Boutin P, Jouret B, Heude B, Balkau B, Tichet J, Marre M, Potoczna N, Horber F, Le Stunff C, Czernichow S, Sandbaek A, Lauritzen T, Borch-Johnsen K, Andersen G, Kiess W, Körner A, Kovacs P, Jacobson P, Carlsson LM, Walley AJ, Jørgensen T, Hansen T, Pedersen O, Meyre D, Froguel P. Common nonsynonymous variants in PCSK1 confer risk of obesity. Nat Genet. 2008 Aug;40(8):943-5. Epub 2008 Jul 6. PubMed PMID: 18604207.

 

Genomes
 

 

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr5:95728974

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr5:95728974

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr5:95728974

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr5:95728974

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr5:95728974

 

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr5:95754730

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr5:95754730

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr5:95754730

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr5:95754730

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr5:95754730

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr5:95754730

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr5:95754730

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr5:95754730

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr5:95754730

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr5:95754730

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr5:95754730

 

GS19670 - var-GS19670-1100-36-ASM
hom C @ chr5:95754730

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr5:95754730

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr5:95754730

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr5:95754730

 

Other external references
 

    dbSNP
  • rs6234
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the PCSK1 gene
    Monogenic Non-Syndromic Obesity, Autosomal Recessive
    Proprotein Convertase-1 Deficiency
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PCSK1
    PharmGKB
  • [Obesity]
    This variant (PCSK1: Q665E) is highly correlated with the nonsynonymous SNP rs 6235 (PCSK1: S690T). In a study at 13,659 individuals of European ancestry the Q665E-S690T pair was consistently associated with obesity in adults and children.
    www.ncbi.nlm.nih.gov/pubmed/18604207
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (48 hits -- see all)
  • PCSK1 [PharmGKB]
    This variant (PCSK1: S690T) is highly correlated with the nonsynonymous SNP rs 6234 (PCSK1: Q665E) ... (PCSK1: Q665E) is highly correlated with the nonsynonymous SNP rs 6235 ...
    www.pharmgkb.org/do/serve?objId=PA33089&objCls=Gene
  • Rs6235 - SNPedia
    Defects in PCSK1 are the cause of proprotein convertase 1 deficiency (PC1 ... This variant (PCSK1: S690T) is highly correlated with the nonsynonymous SNP rs 6234 (PCSK1: Q665E) ...
    snpedia.com/index.php?title=Rs6235
  • Common nonsynonymous variants in PCSK1 confer risk of obesity.
    To assess the contribution of PCSK1 to polygenic obesity risk, we genotyped tag SNPs in a total of 13,659 ... N221D, and rs6234-rs6235, encoding the Q665E-S690T pair, were ...
    tripdatabase.com/doc/722158-Common-nonsynonymous-variants-in-PCSK1...
  • Medline ® Abstract for Reference of 'Pathogenesis of obesity'
    Mutations in PCSK1 cause monogenic obesity. To assess the contribution of PCSK1 to polygenic obesity risk, we ... N221D, and rs6234-rs6235, encoding the Q665E-S690T pair, were ...
    uptodate.com/patients/content/abstract.do?.../ZS&refNum=66
  • Gene und Uebergewicht_bearbeitet [Kompatibilitätsmodus]
    Varianten des PCSK1 Gen (N221D und Q665E-S690T) Proprotein-Konvertase: Umwandlung von ... Impact of PCSK1 variants on. COMPLICATION rate. Impact of PCSK1 ...
    lindberg.ch/default.asp?.../966/Vortrag_Gene_Uebergew.pdf
  • Common nonsynonymous variants in PCSK1 confer risk of obesity ...
    Nature Genetics publishes the very highest quality research in genetics. It encompasses ... and rs6234-rs6235, encoding the Q665E-S690T pair, were consistently associated with ...
    www.nature.com/ng/journal/v40/n8/abs/ng.177.html
  • Association of variants in the PCSK1 gene with obesity in the ...
    The PCSK1 gene encodes the prohormone convertase 1/3 enzyme, expressed in neuroendocrine ... The Q665E–S690T cluster has not, however, been found to alter the ...
    hmg.oxfordjournals.org/cgi/content/full/18/18/3496
  • SNP link
    18 PC1. PCSK1. 6232. N221D Hapmap: 0.050 AFD: 0.042. http://www.ncbi.nlm.nih.gov/SNP/snp_ref. ... Q665E Hapmap: 0.275 AFD 0.188. http://www.ncbi.nlm.nih.gov/SNP/snp_ref. ...
    www.cncr.nl/presynaptic_SNPs.pdf
  • The INS VNTR locus does not associate with Smallness for ...
    Mutations in PCSK1 cause monogenic obesity. To assess the contribution of PCSK1 to polygenic obesity risk, we ... N221D, and rs6234-rs6235, encoding the Q665E-S690T pair, were ...
    lib.bioinfo.pl/pmid:16595598
  • Nature Genetics:人体某种基因变异可导致肥胖-生物研究-生物谷
    Mutations in PCSK1 cause monogenic obesity. To assess the contribution of PCSK1 to polygenic obesity risk, we ... N221D, and rs6234-rs6235, encoding the Q665E-S690T pair, were ...
    www.bioon.com/biology/postgenomics/371887.shtml

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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