ABCB11 V444A - 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:

ABCB11 V444A

(ABCB11 Val444Ala)


Short summary

 

Variant evidence
Computational 1

PolyPhen2: Benign, score 0.015
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 65.28; Class C65
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.4);
PolyPhen=benign(0.003);
Condel=neutral(0.352)
Mutation Tasting Prediction: Polymorphism, P value: 0.875116; protein features (might be) affected (aa 375-755 TOPO_DOM Cytoplasmic (potential) gets lost; aa 420-656 DOMAIN ABC transporter 1 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

  • G @ chr2:169830328: 60.3% (5840/9686) in EVS
  • G @ chr2:169538573: 62.5% (80/128) in GET-Evidence
  • Frequency shown in summary reports: 60.3% (5840/9686)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr2:169830328

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom G @ chr2:169830328

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr2:169830328

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom G @ chr2:169830328

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom G @ chr2:169830328

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom G @ chr2:169830328

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr2:169830328

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr2:169830328

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr2:169830328

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom G @ chr2:169830328

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr2:169830328

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom G @ chr2:169830328

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr2:169830328

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom G @ chr2:169830328

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr2:169830328

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr2:169830328

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom G @ chr2:169830328

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom G @ chr2:169830328

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom G @ chr2:169830328

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom G @ chr2:169830328

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom G @ chr2:169830328

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr2:169830328

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr2:169830328

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr2:169830328

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom G @ chr2:169830328

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom G @ chr2:169830328

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr2:169830328

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom G @ chr2:169830328

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom G @ chr2:169830328

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom G @ chr2:169830328

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom G @ chr2:169830328

 

GS06985 - var-GS06985-1100-36-ASM
hom G @ chr2:169538574

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr2:169538574

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr2:169538574

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr2:169538574

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr2:169538574

 

GS18502 - var-GS18502-1100-36-ASM
hom G @ chr2:169538574

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr2:169538574

 

GS18505 - var-GS18505-1100-36-ASM
het G @ chr2:169538574

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr2:169538574

 

GS18517 - var-GS18517-1100-36-ASM
hom G @ chr2:169538574

 

GS18537 - var-GS18537-1100-36-ASM
hom G @ chr2:169538574

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr2:169538574

 

GS18558 - var-GS18558-1100-36-ASM
hom G @ chr2:169538574

 

GS18940 - var-GS18940-1100-36-ASM
hom G @ chr2:169538574

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr2:169538574

 

GS18947 - var-GS18947-1100-36-ASM
hom G @ chr2:169538574

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr2:169538574

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr2:169538574

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr2:169538574

 

GS19026 - var-GS19026-1100-36-ASM
hom G @ chr2:169538574

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chr2:169538574

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr2:169538574

 

GS19239 - var-GS19239-1100-36-ASM
hom G @ chr2:169538574

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr2:169538574

 

GS19648 - var-GS19648-1100-36-ASM
hom G @ chr2:169538574

 

GS19700 - var-GS19700-1100-36-ASM
hom G @ chr2:169538574

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr2:169538574

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr2:169538574

 

GS19704 - var-GS19704-1100-36-ASM
hom G @ chr2:169538574

 

GS19834 - var-GS19834-1100-36-ASM
hom G @ chr2:169538574

 

GS20502 - var-GS20502-1100-36-ASM
hom G @ chr2:169538574

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr2:169538574

 

GS21767 - var-GS21767-1100-36-ASM
hom G @ chr2:169538574

 

Other external references
 

    dbSNP
  • rs2287622
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.002 (benign)
    Web search results (82 hits -- see all)
  • Mutations and polymorphisms in the bile salt export pump and ...
    METHODS: ABCB11 and ABCB4 were sequenced in 23 patients with drug ... Furthermore, a polymorphism in exon 13 of ABCB11 (V444A), which is associated with decreased hepatic BSEP ...
    www.ncbi.nlm.nih.gov/pubmed/17264802
  • Increased susceptibility for intrahepatic cholestasis of ...
    In contrast, the ABCB11 1331T>C V444A poly- morphism was significantly more frequent in ... Table 5 1331T>C (V444A): Fisher's exact test and ORs for the presence ...
    www.wjgnet.com/1007-9327/14/38.pdf
  • Contribution of variant alleles of ABCB11 to susceptibility ...
    Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy. ... The V444A polymorphism was associated with ICP (allelic analysis for ...
    www.ncbi.nlm.nih.gov/pubmed/18987030
  • Abstract view
    Methods: ABCB11 variation in ICP was investigated by screening for five mutant alleles ... The molecular basis of V444A and N591S was not apparent from the Sav1866 structure. ...
    lshtm.ac.uk/publications/list.php?...&view=abstract
  • Brand-new projects
    Role of the genetic variability of drug-transporter genes ABCB4, ABCB11, ABCC2, ABCB1 AND ... 3435C>T, 2677G>T/A), ABCB11 (1331T>C (V444A)); ABCB4 (3826 A>G) y ...
    spanishdili.uma.es/index.php?...&id=93&Itemid=79&lang=en
  • World J Gastroenterol
    ... study the association of three common ABCB11 and ABCC2 polymorphisms (ABCB11: 1331T>C right arrow V444A; ABCC2: 3563T>A right arrow V1188E and ...
    www.wjgnet.com/1007-9327/abstract_en.asp?f=38&v=14
  • Contribution of Variant Alleles of ABCB11 to Susceptibility ...
    Contribution of Variant Alleles of ABCB11 to Susceptibility to Intrahepatic Cholestasis ... The molecular basis of V444A and N591S was not apparent from the ...
    gut.bmj.com/content/early/2008/11/05/gut.2008.159541
  • Contribution of variant alleles of ABCB11 to susceptibility ...
    Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis ... The V444A polymorphism is a significant risk factor for ICP in this ...
    gut.bmj.com/content/58/4/537.abstract
  • Microsoft PowerPoint - 20080613_1110_Dixon
    ABCB11 (BSEP) variation and. ICP. High affinity bile salt transporter encoded by the ABCB11 ... V444A typing in the second cohort performed by melting curve ...
    drfalkpharma.de/fileadmin/media/.../fs165/S2_P3.pdf
  • De novo bile salt transporter antibodies as a possible cause ...
    (ABCB11); CLF, cholyl-lysyl-fluorescein; ER, endoplasmic reticulum; ... V444A is necessary for the complete disappearance of. BSEP. V444A has a high prevalence in ...
    uni-duesseldorf.de/.../schmitt/Keitel(2009)Hepatology.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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