POR A503V - GET-Evidence

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

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Curation:
Currentness:

POR A503V

(POR Ala503Val)


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

  • T @ chr7:75615006: 23.4% (2376/10156) in EVS
  • T @ chr7:75452941: 22.7% (29/128) in GET-Evidence
  • Frequency shown in summary reports: 23.4% (2376/10156)

Publications
 

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PubMed PMID: 19801957

 

Miller WL. P450 oxidoreductase deficiency: a disorder of steroidogenesis with multiple clinical manifestations. Sci Signal. 2012 Oct 23;5(247):pt11. doi: 10.1126/scisignal.2003318. Review. PubMed PMID: 23092891.

 

Tan SL, Li Z, Zhang W, Song GB, Liu LM, Peng J, Liu ZQ, Fan L, Meng XG, Wang LS, Chen Y, Zhou XM, Zhou HH. Cytochrome P450 oxidoreductase genetic polymorphisms A503V and rs2868177 do not significantly affect warfarin stable dosage in Han-Chinese patients with mechanical heart valve replacement. Eur J Clin Pharmacol. 2013 Oct;69(10):1769-75. doi: 10.1007/s00228-013-1544-2. Epub 2013 Aug 16. PubMed PMID: 23949431.

 

Genomes
 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom T @ chr7:75615006

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr7:75615006

 

 

 

 

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr7:75615006

 

 

 

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr7:75452942

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr7:75452942

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr7:75452942

 

GS12004 - var-GS12004-1100-36-ASM
hom T @ chr7:75452942

 

GS18526 - var-GS18526-1100-36-ASM
hom T @ chr7:75452942

 

GS18537 - var-GS18537-1100-36-ASM
hom T @ chr7:75452942

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr7:75452942

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr7:75452942

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr7:75452942

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chr7:75452942

 

GS18947 - var-GS18947-1100-36-ASM
hom T @ chr7:75452942

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr7:75452942

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr7:75452942

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr7:75452942

 

Other external references
 

    dbSNP
  • rs1057868
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (77 hits -- see all)
  • The Common P450 Oxidoreductase Variant A503V Is Not a ...
    Wild-type and A503V POR, and P450c21 were expressed in bacteria and reconstituted in vitro. ... To determine whether A503V POR affects 21-hydroxylation, we assayed ...
    jcem.endojournals.org/cgi/content/full/93/7/2913
  • The Common P450 Oxidoreductase Variant A503V Is Not a ...
    The POR gene was sequenced in 17 patients with discordant genotype and phenotype. ... Results: The A503V POR variant was found in 10/30 alleles, the same ratio as in a normal ...
    jcem.endojournals.org/.../abstract/jc.2008-0304v3?papetoc
  • POR
    A503V, V631I. Gomes et al., manuscript accepted. POR*38. POR.38. 143delG ... 348delV; A503V. Decr. Fukami et al., 2009. POR*41. POR.41. Deletion of exons 2-13. Deletion of ...
    www.cypalleles.ki.se/por.htm
  • Genetics of P450 oxidoreductase: Sequence variation in 842 ...
    POR contains two flavins, a flavin adenine dinucleotide (FAD) and a flavin mononucleotide ... characterizing the effects of POR sequence variants such as A503V and ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2234213
  • A Variant in the Cytochrome P450 Oxidoreductase Gene Is ...
    The single nucleotide polymorphism (SNP) A503V was common in all racial/ethnic ... Genotype frequency of A503V and G5G polymorphisms in the POR gene and associations with ...
    cancerres.aacrjournals.org/cgi/content/full/67/8/3565
  • A Variant in the Cytochrome P450 Oxidoreductase Gene Is ...
    mutations in POR and in the fibroblast growth factor receptor 2 ... Table 1. Genotype frequency of A503V and G5G polymorphisms in the. POR gene and associations with breast ...
    cancerres.aacrjournals.org/cgi/reprint/67/8/3565.pdf
  • Genetics of P450 oxidoreductase: sequence variation in 842 ...
    Fifteen of 32 exonic variations altered the POR amino acid sequence; 13 of these 15 are ... A previously described variant, A503V, was found on 27.9% of all alleles with ...
    ncbi.nlm.nih.gov/pubmed/18230729?ordinalpos=11&...
  • Genetic polymorphisms in cytochrome P450 oxidoreductase ...
    Although mutations in POR have been identified in several. disease ... A503V has been reported in the NCBI. dbSNP and has moderate influence on POR activity (69 ...
    www.kumc.edu/pharmacology/pdf/ZhongPharmacogeneticsPOR.pdf
  • Clinical, structural and functional implications of mutations ...
    POR is a flavoprotein that contains both flavin mononucleotide and flavin ... Each POR variant was produced as recombinant N-27 form of the enzyme in bacteria ...
    www3.interscience.wiley.com/journal/117978217/abstract
  • Pharmacology - New pharmacology research reported from ...
    NewsRx is the leading source of news and information on Pharmacology ... We have recently reported a number of POR mutations in the patients with disordered steroidogenesis. ...
    www.newsrx.com/article.php?articleID=711261

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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