ABCMdb

PMID: 16952291

Corpechot C, Ping C, Wendum D, Matsuda F, Barbu V, Poupon R
Identification of a novel 974C-->G nonsense mutation of the MRP2/ABCC2 gene in a patient with Dubin-Johnson syndrome and analysis of the effects of rifampicin and ursodeoxycholic acid on serum bilirubin and bile acids.
Am J Gastroenterol. 2006 Oct;101(10):2427-32. Epub 2006 Sep 4., [PubMed]

Sentences

No. Mutations Sentence Comment

45 ABCC2 p.Thr1273Ala ABCC2 p.Thr1273Ala Two point mutations were identified: a nonsense mutation, 974C→G (Ser325X), located in exon 8, and a missense mutation, 3817A→G (Thr1273Ala), positioned in exon 27. Login to comment 78 ABCC2 p.Arg768Trp ABCC2 p.Arg768Trp ABCC2 p.Arg1150His ABCC2 p.Arg1150His ABCC2 p.Arg1066* ABCC2 p.Arg1066* ABCC2 p.Ile1173Phe ABCC2 p.Ile1173Phe ABCC2 p.Gln1382Arg ABCC2 p.Gln1382Arg ABCC2 p.Arg393Trp ABCC2 p.Arg393Trp ABCC2 p.Ser325* ABCC2 p.Ser325* ABCC2 p.Trp709Arg ABCC2 p.Trp709Arg ABCC2 p.Gly676Arg ABCC2 p.Gly676Arg ABCC2 p.Arg100* ABCC2 p.Arg100* ABCC2 p.Arg1310* ABCC2 p.Arg1310* ABCC2 p.Arg412Gly ABCC2 p.Arg412Gly Mutations in the MRP2/ABCC2 Gene Associated with DJS Nucleotide Mutation Exon Predicted Effect Reference 298C→T 3 R100X 27 974C→G 8 S325X This article IVS8 + 4A→G Intron 8 Aberrant splicing 28 1177C→T 9 R393W 29 1256insCT/ delAAACAG TGAACCT- GATG 10 Frameshift 30 1271A→G 10 R412G 31 1815 + 2T→A 13 Skipped exon 32, 33 1967 + 2T→C 15 Skipped exon 34, 35 2026G!92;C 16 G676R 35 2125T192;C 17 W709R 36 2302C→T 18 R768W 32, 37, 38 2439 + 2T→C 18 Skipped exon 32, 35, 37 3196C→T 23 R1066X 39, 40 3449Gș2;A 25 R1150H 41 3517A!92;T 25 I1173F 41 3928C192;T 28 R1310X 27, 33 4145A→G 29 Q1382R 37 4175delGGATGA 30 R1392 + M1393 deletion 40 4292delCA 30 Frameshift 30 DISCUSSION Identification of a Novel Nonsense Mutation of the MRP2/ABCC2 Gene Up to now, 18 mutations in the sequence of the MRP2/ABCC2 gene have been reported in DJS, including nonsense mutations, deletions, splicing junction mutations, and missense mutations (Table 1). Login to comment 83 ABCC2 p.Thr1273Ala This nucleotide variant is predicted to substitute threonine1273 with alanine in the last cytoplasmic domain of the protein. Login to comment