ABCMdb

PMID: 18376240

Alissa FT, Jaffe R, Shneider BL
Update on progressive familial intrahepatic cholestasis.
J Pediatr Gastroenterol Nutr. 2008 Mar;46(3):241-52., [PubMed]

Sentences

No. Mutations Sentence Comment

187 ABCB11 p.Glu297Gly E297G is the most common mutation in individuals of European descent, accounting for approximately 30% of BSEP mutations in European series. Login to comment 188 ABCB11 p.Asp482Gly ABCB11 p.Arg1268Gln ABCB11 p.Gly238Val ABCB11 p.Arg1153Cys ABCB11 p.Arg1153Cys ABCB11 p.Gly982Arg ABCB11 p.Cys336Ser ABCB11 p.Arg575* ABCB11 p.Arg1090* ABCB11 p.Ser593Arg ABCB11 p.Lys461Glu ABCB11 p.Arg1057* Other common mutations include R575X, R1057X, G982R, C336S, R1153C, D482G, K461E, R1153C, R1268Q, R1090X, G238V, S114R, S593R, del 695, and del 3213 (66,67). Login to comment 192 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly The E297G and D482G mutations may yield proteins that are functional but do not traffic appropriately to the canalicular membrane. Login to comment 194 ABCB11 p.Glu297Gly ABCB11 p.Val444Ala ABCB11 p.Glu186Gly ABCB11 p.Arg1050Cys ABCB11 p.Arg1128His ABCB11 p.Ala926Pro ABCB11 p.Thr923Pro ABCB11 p.Ala570Thr Even more subtle mutations of ABCB11 were described in patients with an intermittent form of disease (BRIC2; see below), these mutations include E186G, A570T, T923P, A926P, R1050C, R1128H, V444A, and E297G. Login to comment 195 ABCB11 p.Glu297Gly ABCB11 p.Val444Ala The E297G mutation was previously described in patients with BSEP disease, and V444A was also found in intrahepatic cholestasis of pregnancy (69,70). Login to comment