PMID: 25422986

Mandal AK, Mount DB
The molecular physiology of uric acid homeostasis.
Annu Rev Physiol. 2015;77:323-45. doi: 10.1146/annurev-physiol-021113-170343. Epub 2014 Nov 12., [PubMed]
Sentences
No. Mutations Sentence Comment
234 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 25422986:234:36
status: NEW
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 A common nonsynonymous SNP in ABCG, Q141K, reduced ABCG2 function by 53% in this system. Login to comment 235 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 25422986:235:125
status: NEW
view ABCG2 p.Gln141Lys details
 Subsequent work in mammalian cells (38, 136) and Xenopus oocytes (136) revealed a temperature-dependent expression defect in Q141K-ABCG2, linked to instability of the nucleotide-binding domain (136). Login to comment 236 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 25422986:236:55
status: NEW
view ABCG2 p.Gln141Lys details
ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 25422986:236:191
status: NEW
view ABCG2 p.Gln141Lys details
 There are similarities in the biochemical phenotype of Q141K-ABCG2 and F508 CFTR proteins such that small-molecule therapies designed for cystic fibrosis can rescue the expression defect of Q141K-ABCG2 (136). Login to comment 722 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 25422986:722:13
status: NEW
view ABCG2 p.Gln141Lys details
 Gout-causing Q141K mutation in ABCG2 leads to instability of the nucleotide-binding domain and can be corrected with small molecules. Login to comment