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Curation:

Currentness:

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ABCG8 Y54C

(ABCG8 Tyr54Cys)

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Variant evidence
Computational		-

Functional		-

Case/Control		-

Familial		-


Clinical importance
Severity		-

Treatability		-

Penetrance		-

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Allele frequency

G @ chr2:44071743: 31.8% (3426/10758) in EVS
G @ chr2:43925246: 29.7% (38/128) in GET-Evidence
Frequency shown in summary reports: 31.8% (3426/10758)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs4148211
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the ABCG8 gene
Sitosterolemia
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCG8

PolyPhen-2

Score: 0.01 (benign)

Web search results (70 hits -- see all)

ATP binding cassette G8 T400K polymorphism may affect the ...
RESULTS: 2 SNPs of ABCG8 gene (Y54C and T400K) showed strong linkage ... that the T400K polymorphism in ABCG8 may be associated with the incidence ...
www.ncbi.nlm.nih.gov/pubmed/17612515
Heritability of plasma noncholesterol sterols and ...
of ABCG8 was associated with the plasma cholestanol-choles- terol and campesterol ... ABCG8. genotypes. ABCG8. D19H. ABCG8. Y54C. ABCG8. T400K. ABCG8. A632V. ABCG5 ...
www.jlr.org/cgi/reprint/43/3/486.pdf
Polymorphisms in the ABCG5 and ABCG8 genes associate with ...
Five common polymorphisms of the ABCG8 genes and variables of glucose and cholesterol ... ABCG8:D19H. ABCG8:Y54C. ABCG8:T400K. ABCG8:A632V. ABCG:5Q604E. Wild Type ...
www.jlr.org/cgi/reprint/45/9/1660.pdf
Mutations in ATP-Cassette Binding Proteins G5 (ABCG5) and G8 ...
study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia. ... in ABCG5; and D19H, Y54C, T400K, A632V, and Y641F in ABCG8. ...
interscience.wiley.com/homepages/38515/pdf/mutation/452.pdf
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 ...
This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia. ... and M622V in ABCG5; and D19H, Y54C, T400K, A632V, and Y641F in ABCG8. ...
www.ncbi.nlm.nih.gov/pubmed/11668628
ATP-Binding Cassette (ABC) Transporters in Human Metabolism ...
Two other ABCG transporters, ABCG5 and ABCG8, mutations of which cause ... ABCG5 and (Y54C) in ABCG8 were not associated with. plasma lipid levels. The functions of ...
www.biomed.cas.cz/physiolres/pdf/53/53_235.pdf
Accumulation of Dietary Cholesterol in Sitosterolemia Caused ...
( A) ABCG5 and ABCG8 are tandemly arrayed in a head-to-head orientation ... Tyr, Y54C) with an allele frequency of 23% in. control subjects (n. 100 alleles) was also ...
prodata.swmed.edu/Lab/ABC_Science00.pdf
Microsoft PowerPoint - 20080614_1505_Lammert
D19H Y54C. T400K. A632V. Variants of ABCG5/G8 Genes (Amino Acid ... ABCG8 D19H and Gallstones: Summary of Studies. ABCG8 - a Risk Gene for Cholesterol ...
drfalkpharma.de/fileadmin/media/.../fs165/S7_P5.pdf

Other in silico analyses

NBLOSUM100 score = 6
GET-Evidence autoscore = 2

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C05 from PGP sample 42408046 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B05 from PGP sample 86486261 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B03 from PGP sample 14427241 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_A04 from PGP sample 08188426 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_D02 from PGP sample 27316983 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D05 from PGP sample 1205491 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_G03 from PGP sample 92527586 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_F02 from PGP sample 95788191 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D03 from PGP sample 27486199 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D01 from PGP sample 31286272 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B01 from PGP sample 86206034 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_A04 from PGP sample 13272228 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_H06 from PGP sample 91708424 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F06 from PGP sample 64191565 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F02 from PGP sample 70008981 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_C02 from PGP sample 10366372 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B07 from PGP sample 61499538 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B02 from PGP sample 94378523 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_A07 from PGP sample 96240009 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000006909 view
Mar 5 2012 Genome Importing Robot added hu232307 build 36 substitution variants view
Jun 23 2011 Genome Importing Robot removed [NA18956] view
Jun 23 2011 Genome Importing Robot removed [NA18555] view
Jun 23 2011 Genome Importing Robot removed [NA18507] view
Jun 23 2011 Genome Importing Robot removed [NA12878] view
Jun 23 2011 Genome Importing Robot removed James D. Watson view
Jun 23 2011 Genome Importing Robot removed [NA07022] view
Jun 22 2011 Genome Importing Robot removed [NA19240] view
Jun 22 2011 Genome Importing Robot removed [snp-3] view
Jun 22 2011 Genome Importing Robot removed [snp-2] view
Jun 22 2011 Genome Importing Robot added PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) view
Jun 22 2011 Genome Importing Robot removed Seong-Jin Kim view
Mar 29 2011 Genome Importing Robot added var-GS21767-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS20509-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19735-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19669-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19649-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19648-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19240-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19238-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19020-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18956-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18947-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18942-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18940-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18558-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18555-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18537-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18526-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS10851-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18505-1100-36-ASM view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_H01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_F01_200_37 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_G01_200_37 view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_E01_200_37 view
Dec 27 2009 Genome Importing Robot added [NA07022] view
Dec 27 2009 Genome Importing Robot added [NA18507] view
Dec 27 2009 Genome Importing Robot added [snp-3] view
Dec 27 2009 Genome Importing Robot added [NA19240] view
Dec 27 2009 Genome Importing Robot added [NA18956] view
Dec 27 2009 Genome Importing Robot added [NA18555] view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added [snp-2] view
Dec 27 2009 Genome Importing Robot added James D. Watson view
Dec 27 2009 Genome Importing Robot added Seong-Jin Kim view
Dec 27 2009 Genome Importing Robot added variant view

ABCG8 Y54C - GET-Evidence