ABCG8 W361X - GET-Evidence

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

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Curation:
Currentness:

ABCG8 W361X

(ABCG8 Trp361Stop)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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 @ chr2:44099233: 0.1% (9/10758) in EVS
  • Frequency shown in summary reports: 0.1% (9/10758)

Publications
 

Genomes
 

Other external references
 

    Web search results (15 hits -- see all)
  • Stomatocytic haemolysis and macrothrombocytopenia ...
    All showed mutations in the ABCG5 and ABCG8 previously linked to phytosterolaemia. ... new mutations, while two pedigrees showed the common W361X mutation in ABCG8. ...
    eprints.ucl.ac.uk/8063
  • BioMed Central | Full text | A detailed Hapmap of the ...
    Analysis of the STSL locus reveals differences in variant single nucleotide polymorphisms, haplotypes, and allele frequencies between Caucasians and African-Americans
    www.biomedcentral.com/1471-2350/7/13
  • Mendelian Inheritance in Man Document Reader
    ABCG8 and ABCG5 encode deduced proteins of 673 and 651 amino acids, respectively, that ... All mutations in the ABCG8 gene were found in homozygosity or compound heterozygosity, ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+605460
  • Liver Transplantation in a Patient With Sitosterolemia and ...
    Mutational analyses of ABCG5 and ABCG8 were performed as previously described.18 ... he carried the following 2 mutations: W361X (G1173A) and E423D (G1359T) in ABCG8. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1391914/?tool=pubmed
  • BMC Medical Genetics
    ABCG5 and ABCG8 are thought to have evolved by gene. duplication event ... Three polymorphisms in ABCG8 were unique to the Caucasian. population ...
    www.biomedcentral.com/content/pdf/1471-2350-7-13.pdf
  • O'marcaigh, AS (Aengus S)
    All showed mutations in the ABCG5 and ABCG8 previously linked to phytosterolaemia. ... while two pedigrees showed the common W361X mutation in ABCG8. ...
    lib.bioinfo.pl/auid:5271049
  • Scientific Commons: Stomatocytic haemolysis and ...
    All showed mutations in the ABCG5 and ABCG8 previously linked to phytosterolaemia. ... new mutations, while two pedigrees showed the common W361X mutation in ABCG8. ...
    en.scientificcommons.org/7586560
  • Stomatocytic haemolysis and macrothrombocytopenia ...
    All showed mutations in the ABCG5 and ABCG8 previously linked to phytosterolaemia. ... while two pedigrees showed the common W361X mutation in ABCG8. ...
    www.medscape.com/medline/abstract/16029460
  • Dietary cholesterol absorption; more than just bile.
    In conclusion, we found that although Abcg8 is essential for most involved. ... new mutations, while two pedigrees showed the common W361X mutation in ABCG8. ...
    lib.bioinfo.pl/pmid:11504671

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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