ATP7A V767L - GET-Evidence

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

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Curation:
Currentness:

ATP7A V767L

(ATP7A Val767Leu)


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 @ chrX:77268502: 25.4% (2228/8756) in EVS
  • C @ chrX:77155157: 29.3% (27/92) in GET-Evidence
  • Frequency shown in summary reports: 25.4% (2228/8756)

Publications
 

Deeken JF, Cormier T, Price DK, Sissung TM, Steinberg SM, Tran K, Liewehr DJ, Dahut WL, Miao X, Figg WD. A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform. Pharmacogenomics J. 2009 Dec 29. [Epub ahead of print] PubMed PMID: 20038957.

 

Genomes
 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chrX:77268502

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chrX:77268502

 

 

 

 

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chrX:77155158

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chrX:77155158

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chrX:77155158

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chrX:77155158

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chrX:77155158

 

GS18940 - var-GS18940-1100-36-ASM
hom C @ chrX:77155158

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chrX:77155158

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chrX:77155158

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chrX:77155158

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chrX:77155158

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chrX:77155158

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chrX:77155158

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chrX:77155158

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chrX:77155158

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chrX:77155158

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chrX:77155158

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chrX:77155158

 

GS19834 - var-GS19834-1100-36-ASM
hom C @ chrX:77155158

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chrX:77155158

 

Other external references
 

    dbSNP
  • rs2227291
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Prostatic Neoplasms]
    [docetaxel; thalidomide]
    Risk or phenotype-associated allele: G Phenotype: The ATP7A:rs2227291 G variant was associated with toxicity in response to docetaxel and thalidomide. Study size: 47 Study population/ethnicity: Patients diagnosed with castration-resistant prostate cancer enrolled in a randomized phase II clinical trial comparing docetaxel to docetaxel with thalidomide. Significance metric(s): p = 0.006 Type of association: CO; TOX
    www.ncbi.nlm.nih.gov/pubmed/20038957
    Web search results (22 hits -- see all)
  • Pharma DMET - SNPedia
    Pharma DMET. From SNPedia. Jump to: navigation, search. See also Pharma ADME ... ATP7A ATP7A_(unk1) noncore snp ATP7A ATP7A_(unk2) noncore snp ATP7A ...
    www.snpedia.com/index.php/Pharma_DMET
  • A novel deletion mutation of ATP7A gene in a Chinese family ...
    A novel deletion mutation of ATP7A gene in a Chinese family with Menkes disease ... (GenBank SNP No. rs2227291), which resulted in the amino acid change of V767L (Figure 2E) ...
    cmj.org/Periodical/PaperList.asp?id=LW2008117570492307360
  • World's Biggest Open Access English Language Journals Portal ...
    ATP7A and ATP7B are involved in cellular resistance to platinum compounds such as cisplatin. ... at 0.004 frequencies and known 2299G>C (V767L) and 4390A>G (I1464V) at 0.351 and ...
    www.openj-gate.org/Browse/Articlelist.aspx?Journal_ID=105810
  • "Ohtsu A"[Author] の検索結果 - ATGC論文チェッカー|Pubmed(パブメド)の論文検索をスムーズに ...
    ATP7A and ATP7B are involved in cellular resistance to platinum compounds such as cisplatin. ... at 0.004 frequencies and known 2299G>C (V767L) and 4390A>G (I1464V) at 0.351 and ...
    www.atgcchecker.com/search/?search="Ohtsu+A"[Author]
  • ニュースレター
    日本人における ATP7A 及び ATP7B の遺伝子多型解析. Fukushima-Uesaka, H., et al., pp. 565. 574 ATP7A と ATP7B は,銅のトランスポーターであり, 白金系抗がん剤の細胞外排泄にも関与しているとされる. 今回,白金系抗がん剤の治療を受けた日本 ...
    www.jssx.org/jpn/newsletter/bn-pdf/24-6.pdf
  • Kunitoh, H (Hideo)
    ATP7A and ATP7B are involved in cellular resistance to platinum compounds such as cisplatin. ... at .004 frequencies and known 2299G>C (V767L) and 4390A>G (I1464V) at .351 and. ...
    lib.bioinfo.pl/auid:1425484
  • Clinical experience
    A novel deletion mutation of ATP7A gene in a Chinese family ... 2. Sequencing results of the mutations in ATP7A. A. The c.3045del T deletion mutation on ...
    www.cmj.org/Periodical/PdfList.asp?id=LW2008117570492307360
  • Clinical management of EGFRI dermatologic toxicities: the ...
    ATP7A and ATP7B are involved in cellular resistance to platinum compounds such as cisplatin. ... at .004 frequencies and known 2299G>C (V767L) and 4390A>G (I1464V) at .351 and. ...
    lib.bioinfo.pl/pmid:18159648
  • 論文詳細:Genetic polymorphisms of copper- and platinum drug ...
    論文:Genetic polymorphisms of copper- and platinum drug...[Drug metabolism and pharmacokinetics] - Pubmed Result(ATGCchecker)の詳細情報です。フルテキスト情報、関連する論文情報も掲載。
    atgcchecker.com/pubmed/20045993

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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