ATP7B K832R - 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 K832R

(ATP7B Lys832Arg)


You are viewing the latest version of this page, saved on November 29, 2012 at 7:28am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational 3

PolyPhen2: Possibly damaging 0.728
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 26.00; Class C25
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.1);
PolyPhen=possibly_damaging(0.749);
Condel=deleterious(0.819)
Mutation Tasting Prediction: Polymorphism, P value: 0.001414
protein features (might be) affected (aa 786-919 TOPO_DOM Cytoplasmic (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

  • C @ chr13:52524488: 55.5% (5812/10468) in EVS
  • C @ chr13:51422488: 50.8% (65/128) in GET-Evidence
  • Frequency shown in summary reports: 55.5% (5812/10468)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr13:52524488

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom C @ chr13:52524488

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom C @ chr13:52524488

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr13:52524488

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr13:52524488

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr13:52524488

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom C @ chr13:52524488

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom C @ chr13:52524488

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom C @ chr13:52524488

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr13:52524488

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom C @ chr13:52524488

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom C @ chr13:52524488

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr13:52524488

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr13:52524488

 

Added in this revision:

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr13:52524488

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr13:52524488

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom C @ chr13:52524488

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr13:52524488

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr13:52524488

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr13:52524488

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr13:52524488

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom C @ chr13:52524488

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr13:52524488

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom C @ chr13:52524488

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr13:52524488

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr13:52524488

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr13:52524488

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr13:52524488

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr13:51422489

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr13:51422489

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr13:51422489

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr13:51422489

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr13:51422489

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr13:51422489

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr13:51422489

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr13:51422489

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr13:51422489

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr13:51422489

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr13:51422489

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr13:51422489

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr13:51422489

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr13:51422489

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr13:51422489

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr13:51422489

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr13:51422489

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr13:51422489

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr13:51422489

 

GS19238 - var-GS19238-1100-36-ASM
hom C @ chr13:51422489

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr13:51422489

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr13:51422489

 

GS19648 - var-GS19648-1100-36-ASM
hom C @ chr13:51422489

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr13:51422489

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr13:51422489

 

GS19700 - var-GS19700-1100-36-ASM
hom C @ chr13:51422489

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr13:51422489

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr13:51422489

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr13:51422489

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr13:51422489

 

GS21767 - var-GS21767-1100-36-ASM
hom C @ chr13:51422489

 

Other external references
 

    dbSNP
  • rs1061472
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.461 (possibly damaging)
    Web search results (7 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
  • 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
  • Ad Astra - An Online Project for the Romanian Scientific ...
    Direct sequencing of all 21 exons within ATP7B gene was performed for all five WD patients. ... frameshift mutation (P767P-fs) and two were missense mutations (H1069G and K832R) ...
    ad-astra.ro/research/view_publication.php?...&lang=en
  • Ad Astra - Proiect online pentru comunitatea stiintifică ...
    Direct sequencing of all 21 exons within ATP7B gene was performed for all five WD patients. ... frameshift mutation (P767P-fs) and two were missense mutations (H1069G and K832R) ...
    ad-astra.ro/research/view_publication.php?...&lang=ro
  • Wilson disease: Identifi cation of two novel mutations and ...
    In the present study, mutations of the ATP7B gene. were sought by means of direct ... the present study, mutations of the ATP7B gene were sought by means of direct ...
    www.wjgnet.com/1007-9327/13/5147.pdf
  • Mutation analysis of the ATP7B gene and genotype/phenotype ...
    Mutation analysis of the ATP7B gene and genotype/phenotype ... the ATP7B gene. This study presents the results of comprehensive mutation analysis in 227 ...
    fnbrno.cz/.../IHOK - CMBGT/63_Mol_Genet_Metabol_2005.pdf
  • 肝豆状核变性基因外显子突变研究--《浙江大学》2003年博士论文
    鲍远程;余元勋;吴鹏;蒋怀周;汪鸿浩;;HLD ATP7B基因8、12、14、16、18号外显子突变的DNA分析(Ⅱ)[J];中国优生优育;2007年03期 ... 余元勋;朱霖;鲍远程;吴鹏;蒋怀周;汪鸿浩;;WD患者ATP7B基因exon8 DNA突变检测方法的研究[J];中国优生与遗传杂志;2007年12期 ...
    cdmd.cnki.com.cn/Article/CDMD-10335-2003081258.htm

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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