PMID: 26428519

Stiburkova B, Miyata H, Zavada J, Tomcik M, Pavelka K, Storkanova G, Toyoda Y, Takada T, Suzuki H
Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis.
Rheumatology (Oxford). 2016 Jan;55(1):191-4. doi: 10.1093/rheumatology/kev350. Epub 2015 Sep 30., [PubMed]
Sentences
No. Mutations Sentence Comment
18 ABCG2 p.Val12Met
X
ABCG2 p.Val12Met 26428519:18:210
status: NEW
view ABCG2 p.Val12Met details
 The analysis of ABCG2 revealed eight variants in intron regions, an unpublished heterozygous intron variant c.689+1G>A and two exon variants, synonymous rs35622453 and heterozygous non-synonymous rs22231137 (p.V12M), which had little effect on the expression and urate transport activity of ABCG2 [6]. Login to comment