ABCB4 R652G - 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.

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Curation:
Currentness:

ABCB4 R652G

(ABCB4 Arg652Gly)


Short summary

 

Variant evidence
Computational 1

PolyPhen2: Benign, score 0.000
SIFT: Affect protein function 0.03
GVGD: GV 104.46; GD 83.31; Class C15
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.37);
PolyPhen=benign(0);
Condel=deleterious(0.623)
Mutation Tasting Prediction: Polymorphism, P value: 0.999996; protein features (might be) affected (aa 355-711 TOPO_DOM Cytoplasmic (By similarity) 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 @ chr7:87056176: 16.6% (1788/10758) in EVS
  • C @ chr7:86894111: 17.2% (22/128) in GET-Evidence
  • Frequency shown in summary reports: 16.6% (1788/10758)

Publications
 

Genomes
 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr7:87056176

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr7:86894112

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr7:86894112

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr7:86894112

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr7:86894112

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr7:86894112

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr7:86894112

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr7:86894112

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr7:86894112

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr7:86894112

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr7:86894112

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr7:86894112

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr7:86894112

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chr7:86894112

 

GS19704 - var-GS19704-1100-36-ASM
hom C @ chr7:86894112

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr7:86894112

 

Other external references
 

    dbSNP
  • rs2230028
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (37 hits -- see all)
  • Pharma DMET - SNPedia
    ... noncore snp rs45524431 ABCB4 ABCB4_48606A>G(R652G) noncore snp rs8187799 ABCB4 ABCB4_55399G>C(T775T) noncore snp rs45498393 ABCB4 ABCB4_55437G>A ...
    www.snpedia.com/index.php/Pharma_DMET
  • Hepatobiliary phospholipid transporter ABCB4, MDR3 gene ...
    Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with ... R549H, G536A), 1 in exon 15 (R590Q) and 2 in exon 16 (R652G, T6671) ...
    www.ncbi.nlm.nih.gov/pubmed/18083082
  • Gastroenterology and Hepatology
    For genotyping we chose 4 SNPs of the ABCB4 gene (c.504C>T, c.711T>A, p.R652G, rs31653 in intron 26), all previously identified by our group3. ...
    esci.eu.com/esci2008_abstracts_subsp_session_gastroentero...
  • Obstetric Cholestasis RSS
    Multidrug resistance protein 3 R652G may reduce susceptibility to ... of ABCB4 and is indispensable for the plasma membrane localization and translocation function of ABCB4. ...
    medworm.com/rss/search.php?qu="obstetric+cholestasis"+...
  • MDR or MRP, Primary Sclerosing Cholangitis Literature
    Abdullaev IF, Rudkouskaya A, Schools GP, Kimelberg HK, Mongin AA. Pharmacological ... ABCB4 and ABCB11 and plasma lipid levels: a study in sib pairs with ...
    www.psc-literature.org/MDR.htm
  • MDR3 mutations associated with intrahepatic and gallbladder ...
    Rosmorduc et al identified mutations in the ABCB4 (MRD3) gene in 6 symptomatic adult patients with a pecu ... in 2 cases and for the R652G missense mutation (considered to be a ...
    www.medigraphic.com/pdfs/hepato/ah-2007/ah073d.pdf
  • bilirubin, Primary Sclerosing Cholangitis Literature
    Abbasi S, Stewart DL, Radmacher P, Adamkin D. Natural course of cholestasis in ... phospholipids in development of liver injury in Mdr2 (Abcb4) knockout mice. ...
    www.psc-literature.org/bili.htm
  • Supplementary Table xls.1
    ... rs8187758*Q237K rs8187792*ABCB4 NM_000443 NP_000434*L238V ... NP_061337 NM_018850 NP_061338 rs8187797*E528D rs8187799*R652G rs8187801*R788Q rs8187818*V21I rs8187820*V122M ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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