SLCO1B3 M233I - GET-Evidence

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

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Curation:
Currentness:

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SLCO1B3 M233I

(SLCO1B3 Met233Ile)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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

  • A @ chr12:21015760: 71.8% (7725/10758) in EVS
  • A @ chr12:20907026: 70.3% (90/128) in GET-Evidence
  • Frequency shown in summary reports: 71.8% (7725/10758)

Publications
 

301 Moved Permanently

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PubMed PMID: 19890249

 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom A @ chr12:21015760

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr12:21015760

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom A @ chr12:21015760

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom A @ chr12:21015760

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr12:21015760

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom A @ chr12:21015760

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr12:21015760

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr12:21015760

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr12:21015760

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom A @ chr12:21015760

 

GS06985 - var-GS06985-1100-36-ASM
hom A @ chr12:20907027

 

GS06994 - var-GS06994-1100-36-ASM
hom A @ chr12:20907027

 

GS07357 - var-GS07357-1100-36-ASM
hom A @ chr12:20907027

 

GS10851 - var-GS10851-1100-36-ASM
hom A @ chr12:20907027

 

GS12004 - var-GS12004-1100-36-ASM
hom A @ chr12:20907027

 

GS18502 - var-GS18502-1100-36-ASM
hom A @ chr12:20907027

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr12:20907027

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr12:20907027

 

GS18537 - var-GS18537-1100-36-ASM
hom A @ chr12:20907027

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr12:20907027

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr12:20907027

 

Added in this revision:

GS18940 - var-GS18940-1100-36-ASM
hom A @ chr12:20907027

 

NA07022

 

NA12156

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

snp-1

 

snp-18

 

snp-2

 

snp-3

 

snp-31

 

snp-6

 

Other external references
 

    dbSNP
  • rs7311358
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Organ Transplantation]
    [cyclosporine; mycophenolate mofetil; sirolimus; tacrolimus]
    Risk or phenotype-associated allele: SCLO1B3 haplotype formed by 112Ser>Ala (rs4149117, 334T>G) and 223Met>Ile (rs7311358, 699G>A). Phenotype: HEK293 cells transiently expressing the SCLO1B3 334G-699A haplotype or reference haplotype were incubated in the presence of increasing concentrations of mycophenolic acid phenyl-glucuronide (MPAG) for 10 min. The uptake of MPAG according to the SCLO1B3 334G-699A haplotype was markedly lower than in cells expressing the reference sequence 334T-669G. Type of association: GN; FA; PK
    www.ncbi.nlm.nih.gov/pubmed/19890249
    PolyPhen-2
  • Score: 0.131 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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