ABCMdb

PMID: 11855938

Lam CW, Cheng AW, Tong SF, Chan YW
Novel donor splice site mutation of ABCG5 gene in sitosterolemia.
Mol Genet Metab. 2002 Feb;75(2):178-80., [PubMed]

Sentences

No. Mutations Sentence Comment

1 ABCG5 p.Arg419His ABCG5 p.Arg419His The first is a missense mutation that changes the amino acid residue at position 419 from arginine to histidine, i.e., R419H. Login to comment 6 ABCG5 p.Arg419His We believe that R419H in our Chinese patient may have the same origin as the mutation in the Japanese patients with sitosterolemia. Login to comment 35 ABCG5 p.Arg419His The first mutation is a missense mutation, changing codon 419 from CGC to CAC, i.e., 1256G 3 A or R419H. Login to comment 41 ABCG5 p.Arg419His The R419H mutation was found in the father, and the IVS12 ϩ 1G 3 A was found in the mother. Login to comment 43 ABCG5 p.Arg419His The missense mutation, R419H, has only been found in Japanese patients with sitosterolemia (2). Login to comment 45 ABCG5 p.Arg419His We believe that R419H in our Chinese patient may also share a common origin with the same mutant allele in the Japanese patients with sitosterolemia. Login to comment 50 ABCG5 p.Arg419His BRIEF COMMUNICATION Chinese and Japanese patients with the R419H mutation will provide interesting evidence of the anthropological origin of these populations. Login to comment