ABCG5 Q604E - GET-Evidence

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

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Curation:
Currentness:

ABCG5 Q604E

(ABCG5 Gln604Glu)


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

  • C @ chr2:44040401: 21.4% (2305/10758) in EVS
  • C @ chr2:43893904: 24.2% (31/128) in GET-Evidence
  • Frequency shown in summary reports: 21.4% (2305/10758)

Publications
 

Genomes
 

 

 

 

 

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr2:44040401

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom C @ chr2:44040401

 

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr2:43893905

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr2:43893905

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr2:43893905

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chr2:43893905

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr2:43893905

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr2:43893905

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr2:43893905

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr2:43893905

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr2:43893905

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr2:43893905

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr2:43893905

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr2:43893905

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr2:43893905

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr2:43893905

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr2:43893905

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr2:43893905

 

Other external references
 

    dbSNP
  • rs6720173
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.73 (possibly damaging)
    Web search results (120 hits -- see all)
  • Microsoft Word - file01
    The role of polymorphisms of sitosterolemia genes ABCG5 and ABCG8 in the regulation of ... syndrome in men with the Q604E polymorphism of the ABCG5 gene. ...
    www.jlr.org/cgi/reprint/M300522-JLR200v1.pdf
  • Microsoft Word - RPlat-ABCG8-tekst-JLR
    Q604E) showed significantly higher serum LDL cholesterol concentrations as ... Weggemans et al (30) found that subjects with the ABCG5 Q604E EE ...
    www.jlr.org/cgi/reprint/M400210-JLR200v1.pdf
  • Single nucleotide polymorphisms in ABCG5 and ABCG8 are ...
    Homozygous Q604E variants in ABCG5 had larger (P < 0.05) reductions in ... SNPs in ABCG5/G8 were found to be associated with the response of cholesterol metabolism ...
    www.ncbi.nlm.nih.gov/pubmed/17827468
  • Polymorphisms in ABCG5/G8 transporters linked to ...
    Polymorphisms in ABCG5/G8 transporters linked to hypercholesterolemia ... and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated ...
    www.ncbi.nlm.nih.gov/pubmed/18522623
  • ABCG5 - ATP-binding cassette, sub-family G (WHITE), member 5
    ABCG5 and ABCG8 genes were not associated with the risk of CAD. ... Five nonsynonymous polymorphisms of Q604E ( ABCG5), D19H, C54Y, T400 K and A632 ...
    www.ihop-net.org/UniPub/iHOP/gs/102054.html
  • ARS | Publication request: Single Nucleotide Polymorphisms in ...
    Single Nucleotide Polymorphisms in ABCG5 and ABCG8 are associated with changes ... Homozygous Q604E variants in ABCG5 had larger reductions in cholesterol ...
    ars.usda.gov/research/publications/Publications.htm?...
  • Abcg5 - Wellsphere
    Abcg5 - Free tips, articles, expert advice, videos, communities and more. ... Homozygous Q604E variants in ABCG5 had larger reductions in cholesterol ...
    stanford.wellsphere.com/wellmix360/abcg5
  • Mutations in ATP-Cassette Binding Proteins G5 (ABCG5) and G8 ...
    frameshift mutation (c.336-337insA) in ABCG5 that results in premature termination of the ... polymorphisms are also reported: I523V, C600Y, Q604E, and M622V ...
    interscience.wiley.com/homepages/38515/pdf/mutation/452.pdf
  • BMC Medical Genetics
    loci show relatively equal extent of variations in Abcg5 and ... ABCG5, R50C and Q604E showed variations in our study. population, the remaining 4 SNPs ...
    www.biomedcentral.com/content/pdf/1471-2350-7-13.pdf
  • BioMed Central | Full text | A detailed Hapmap of the ...
    ABCG5 and ABCG8 are thought to have evolved by gene duplication event ... The only cSNP we could estimate by this methodology in ABCG5 was Q604E (~4,000 y old) ...
    www.biomedcentral.com/1471-2350/7/13

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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