PMID: 11435688

Shulenin S, Schriml LM, Remaley AT, Fojo S, Brewer B, Allikmets R, Dean M
An ATP-binding cassette gene (ABCG5) from the ABCG (White) gene subfamily maps to human chromosome 2p21 in the region of the Sitosterolemia locus.
Cytogenet Cell Genet. 2001;92(3-4):204-8., [PubMed]
Sentences
No. Mutations Sentence Comment
52 ABCG5 p.Arg50Cys
X
ABCG5 p.Arg50Cys 11435688:52:102
status: VERIFIED
view ABCG5 p.Arg50Cys details
 The only variants detected were the Q609E polymorphism and an arginine to cystine change in codon 50 (R50C). Login to comment 53 ABCG5 p.Arg50Cys
X
ABCG5 p.Arg50Cys 11435688:53:4
status: VERIFIED
view ABCG5 p.Arg50Cys details
 The R50C variant was seen in the father of an affected individual and alters a residue that is con- Fig. 1. Login to comment