GPR35 T253M - GET-Evidence

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

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Curation:
Currentness:

GPR35 T253M

(GPR35 Thr253Met)


Short summary

 

Variant evidence
Computational -
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 @ chr2:241570127: 5.4% (586/10758) in EVS
  • T @ chr2:241218799: 4.2% (5/118) in GET-Evidence
  • Frequency shown in summary reports: 5.4% (586/10758)

Publications
 

Genomes
 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr2:241570127

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr2:241570127

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr2:241570127

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr2:241218800

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr2:241218800

 

Other external references
 

    dbSNP
  • rs12468485
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.471 (possibly damaging)
    Web search results (8 hits -- see all)
  • Microsoft Word - Supplemental 1 Rochester
    rs2266917, + 2 SNPs w/o rs #s. ancient ubiquitous protein 1. AUP1. 2p13 ... GPR35. 2q37.3. 241217467. 241219342. 6. rs12468453, rs3749172, rs2975786, rs12468485, ...
    biomedcentral.com/.../supplementary/1755-8794-1-16-s1.pdf
  • G-protein coupled receptor 35 - Homo sapiens (Human)
    "Isolation of complete coding sequence for G-protein coupled receptor 35 (GPR35) ... "Kynurenic acid as a ligand for orphan G protein-coupled receptor GPR35. ...
    www.uniprot.org/uniprot/Q9HC97
  • DOI: 10.1161/HYPERTENSIONAHA.106.081265 2007;49;992-999 ...
    GPR35. hCV83424. rs12468485 nonsynonymous 2q37.3. GPR35. hCV25643266. rs3749172. nonsynonymous ... GPR35. hCV83423. rs2975786. UTR. 2q37.3. GPR35. hCV11532561. 2q37.3. G ...
    hyper.ahajournals.org/cgi/reprint/49/5/992.pdf
  • Genetic variation in the gene encoding calpain-10 is ...
    GPR35 is expressed in all adult and fetal human tissues that we ... GPR35 and 4 in the intergenic region. distal to GPR35. The coding region of GPR35 is ...
    genemed.bsd.uchicago.edu/pubs/horikawa163.pdf
  • Type I- 95%
    ... GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient ... 862) CAMK2 (0.920) CILD3 16627867 GPR35 Q9HC97 T253M 253 VAR_013605 PKC (0.779) 11017071 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • Type I- 97%
    ... VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 S232T 232 ... 920) CILD3 16627867 GPR35 Q9HC97 T253M 253 VAR_013605 PKC (0.779) 11017071 HNF4A P41235 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_97.txt
  • UniProt: Q9HC97
    ... of complete coding sequence for G-protein coupled receptor RT 35 (GPR35) ... RT "Kynurenic acid as a ligand for orphan G protein-coupled receptor RT GPR35. ...
    www.genome.jp/dbget-bin/www_bget?uniprot+Q9HC97

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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