PMID: 20090896

Ichida K
What lies behind serum urate concentration? Insights from genetic and genomic studies.
Genome Med. 2009 Dec 29;1(12):118., [PubMed]
Sentences
No. Mutations Sentence Comment
89 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 20090896:89:30
status: VERIFIED
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 The frequency of the mutation Q141K, encoded by the common SNP rs2231142, is highly variable in the human population; the frequency of the A allele ranges from 1 to 5% in Africans, to approximately 30% in Asians. Login to comment 90 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 20090896:90:36
status: VERIFIED
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 Urate transport by the ABCG2 mutant Q141K is about half that of the wild type [43]. Login to comment 91 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 20090896:91:54
status: VERIFIED
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ABCG2 p.Gln126*
X
ABCG2 p.Gln126* 20090896:91:0
status: VERIFIED
view ABCG2 p.Gln126* details
 Q126X shows stronger effects on gout development than Q141K, conferring an odds ratio of 5.97 [44]. Login to comment