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:

HLA-DQA1 T130I

(HLA-DQA1 Thr130Ile)

Variant evidence
Computational	4	PolyPhen2: Benign, score 0.000 SIFT: Tolerated 0.07 GVGD:GV 92.35; GD 0.00; Class C0 Variant Effect Predictor (Ensembl): SIFT=tolerated(0.27); PolyPhen=benign(0.008); Condel=neutral(0.444) Mutation Tasting Prediction: Polymorphism, P value: 0.194747; protein features: N/A

Functional	-

Case/Control	-

Familial	-


Clinical importance
Severity	-

Treatability	-

Penetrance	-

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Allele frequency

T @ chr6:32609806: 24.2% (1821/7524) in EVS
T @ chr6:32717783: 21.3% (26/122) in GET-Evidence
Frequency shown in summary reports: 24.2% (1821/7524)

Publications

Genomes

Other external references

dbSNP

rs707952
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the HLA-DQA1 gene
Celiac disease
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HLA-DQA1

Web search results (5 hits -- see all)

2007
T130I mutation in HNF-4a gene is a loss-of-function mutation in hepatocytes and ... HLA-DQA1*1 contributes to resistance and A1*3 confers susceptibility to Type 1 ...
srv02.medic.kumamoto-u.ac.jp/dept/biochem2/DM references.htm
Type I- 95%
... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... type FAP 2891727 HLA-DRB1 P04229 Y76F 76 VAR_033382 PDGFR (0.868) Polymorphism ...
www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
POSTER PRESENTATIONS
Psychological and psychosomatical approach in. adolescents with ... Panteion University, Athens, Greece. Objectives: Aim of this study was to evaluate the ...
ww2.ispad.org/2007-berlin/2007-posters-1.pdf
Kazuya Yamagata - research profile on BiomedExperts
T130I mutation in HNF-4alpha gene is a loss-of-function mutation in hepatocytes ... HLA-DQA1*1 contributes to resistance and A1*3 confers susceptibility to type 1 ...
www.biomedexperts.com/Profile.bme/1569473/Kazuya_Yamagata
SciLink | K YAMAGATA
HLA-DQA1*1 contributes to resistance and A1*3 confers susceptibility to type 1 ... T130I mutation in HNF-4alpha gene is a loss-of-function mutation in hepatocytes ...
www.scilink.com/profile.action?type=author&pk=462780

Other in silico analyses

NBLOSUM100 score = 3
GET-Evidence autoscore = 3

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C07 from PGP sample 74521372 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B03 from PGP sample 14427241 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_A04 from PGP sample 08188426 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_F02 from PGP sample 95788191 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B05 from PGP sample 83494370 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_D06 from PGP sample 69488604 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_C02 from PGP sample 10366372 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_A07 from PGP sample 96240009 view
Aug 13 2011 Han Luu edited variant summary view
Jun 23 2011 Genome Importing Robot removed [NA19129] view
Jun 23 2011 Genome Importing Robot removed [NA18555] view
Jun 23 2011 Genome Importing Robot removed [NA18517] view
Jun 23 2011 Genome Importing Robot removed [NA18507] view
Jun 23 2011 Genome Importing Robot removed [NA12878] view
Jun 22 2011 Genome Importing Robot removed Stephen Quake view
Jun 15 2011 Han Luu edited variant summary view
Mar 29 2011 Genome Importing Robot added var-GS21767-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS20502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19735-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19701-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19670-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19649-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19240-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19239-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19129-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19026-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18942-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18555-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18526-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18517-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS07357-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18504-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18505-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Jr. view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Sr. view
Dec 6 2010 Genome Importing Robot added hu3215A7 build 36 substitution variants view
Dec 6 2010 Genome Importing Robot added hu728FFF build 36 substitution variants view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_B02_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_B01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_A01_200_37 view
May 12 2010 Genome Importing Robot added Henry Louis Gates Jr. view
Feb 17 2010 Genome Importing Robot added Henry Louis Gates Sr. view
Dec 27 2009 Genome Importing Robot added Stephen Quake view
Dec 27 2009 Genome Importing Robot added [NA18507] view
Dec 27 2009 Genome Importing Robot added [NA19240] view
Dec 27 2009 Genome Importing Robot added [NA19129] view
Dec 27 2009 Genome Importing Robot added [NA18555] view
Dec 27 2009 Genome Importing Robot added [NA18517] view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added variant view

HLA-DQA1 T130I - GET-Evidence