ATP7B R952K - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

ATP7B R952K

(ATP7B Arg952Lys)


Short summary

 

Variant evidence
Computational 2

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 1.00
GVGD: GV 26.00; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(1);
PolyPhen=benign(0);
Condel=not_computable_was(-1)
Mutation Tasting Prediction: Polymorphism, P value: 0.999999; protein features (might be) affected (aa 943-972 TOPO_DOM Extracellular (Potential) gets lost)

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 @ chr13:52523808: 57.5% (5588/9718) in EVS
  • T @ chr13:51421808: 53.1% (68/128) in GET-Evidence
  • Frequency shown in summary reports: 57.5% (5588/9718)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr13:52523808

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom T @ chr13:52523808

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom T @ chr13:52523808

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom T @ chr13:52523808

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr13:52523808

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr13:52523808

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom T @ chr13:52523808

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom T @ chr13:52523808

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom T @ chr13:52523808

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr13:52523808

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom T @ chr13:52523808

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom T @ chr13:52523808

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr13:52523808

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom T @ chr13:52523808

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr13:52523808

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr13:52523808

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom T @ chr13:52523808

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr13:52523808

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr13:52523808

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr13:52523808

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom T @ chr13:52523808

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom T @ chr13:52523808

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr13:52523808

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom T @ chr13:52523808

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr13:52523808

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom T @ chr13:52523808

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr13:52523808

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr13:52523808

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr13:51421809

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr13:51421809

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr13:51421809

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr13:51421809

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr13:51421809

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr13:51421809

 

GS18502 - var-GS18502-1100-36-ASM
hom T @ chr13:51421809

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr13:51421809

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr13:51421809

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr13:51421809

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr13:51421809

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr13:51421809

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr13:51421809

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr13:51421809

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr13:51421809

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr13:51421809

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr13:51421809

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr13:51421809

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr13:51421809

 

GS19238 - var-GS19238-1100-36-ASM
hom T @ chr13:51421809

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr13:51421809

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr13:51421809

 

GS19648 - var-GS19648-1100-36-ASM
hom T @ chr13:51421809

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr13:51421809

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr13:51421809

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr13:51421809

 

GS19700 - var-GS19700-1100-36-ASM
hom T @ chr13:51421809

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr13:51421809

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr13:51421809

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr13:51421809

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr13:51421809

 

GS20509 - var-GS20509-1100-36-ASM
hom T @ chr13:51421809

 

GS21767 - var-GS21767-1100-36-ASM
hom T @ chr13:51421809

 

Other external references
 

    dbSNP
  • rs732774
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (12 hits -- see all)
  • AceView: Gene:ATP7B, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=ATP7B
  • Biological Research - XXXIX REUNIÓN ANUAL DE GENÉTICA DE CHILE
    XXXIX REUNIÓN ANUAL DE GENÉTICA DE CHILE. PROGRAMA Y RESÚMENES DE ... Hotel San Martín-Viña del Mar - Chile. CONFERENCIAS. EL DNA MITOCONDRIAL DE DROSOPHILA ...
    scielo.cl/scielo.php?script=sci_arttext&...
  • 05-Biological Supl-Gene-2007
    REFUTA AL NEUTRALISMO (The mtDNA of. Drosophila refutes neutralism) ... Programa de Genética Humana, ICBM, Facultad de. Medicina, Universidad de Chile. Casilla ...
    sochigen.cl/subidos/2009/Resumenes XXXIX Reunion Anual So...
  • ニュースレター
    と I1464V であった.また,ATP7B では,28種の新規を. 含む61種の多型を検出した.このうちアミノ酸置換を伴. う 多型 は , 新規 の M420V, A476T, T801P と 既知 の. A406S, V456L, K832R, I929V, R952K, P957PfsX9, ...
    www.jssx.org/jpn/newsletter/bn-pdf/24-6.pdf
  • Wilson病基因突变的检测和分析--《天津医科大学》2005年硕士论文
    到目前为止已发现200多种基因突变类型散在分布于ATP7B因各个外显子。 目的 研究ATP7B基因突变的类型和发生情况,探讨WD基因诊断的意义和方法以及WD患者临床表型和基因型之间的关系。 ... C)。在13例患者中,发现6例R778L突变,2例D756N突变;R952K和2790de13各1例,均为杂合型突变,涉及10个等位基因, ...
    cdmd.cnki.com.cn/Article/CDMD-11904-2005118960.htm
  • Epernicus: Pablo Astudillo, M.Sc.
    Genetic Analysis of the ATP7B gene in Chilean Subjects: Correlation with Plasma ... Alta prevalencia del polimorfismo R952K del gen ATP7B en la población Chilena, y ...
    www.epernicus.com/pa11
  • COMUNICACIONES LIBRES PANELES
    Prevalence of R952K Polymorphism of ATP7B gene in Chilean. Population: Association with ... Diversos polimorfismos han sido descritos en el gen ATP7B, que ...
    fotografias.sochigen.cl/.../COMUNICACIONESLIBRES2006.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in