ABCMdb

PMID: 15870973

Machida I, Wakusawa S, Sanae F, Hayashi H, Kusakabe A, Ninomiya H, Yano M, Yoshioka K
Mutational analysis of the MRP2 gene and long-term follow-up of Dubin-Johnson syndrome in Japan.
J Gastroenterol. 2005 Apr;40(4):366-70., [PubMed]

Sentences

No. Mutations Sentence Comment

45 ABCC2 p.Arg393Trp The mutation 1177CϾT in exon 9, found in patient 3 (entry ID, case 4), was a novel one, which introduced a missense mutation of Arg393Trp in the intracellular region of the MRP2 protein (Fig. 1). Login to comment 63 ABCC2 p.Arg393Trp The mutation was predicated to cause the mutation Arg393Trp in the amino-acid sequence of the MRP2 protein. Login to comment 66 ABCC2 p.Arg768Trp ABCC2 p.Arg393Trp ABCC2 p.Gly676Arg 298CϾT Gly100Stop 14 1177CϾT Arg393Trp Novel 1967ϩ2TϾC 1901del67 (exon 15 skipping) 12 2026GϾC Gly676Arg 6 2302CϾT Arg768Trp 13 2439ϩ2TϾC 2272del168 (exon 18 skipping) 8 a b immunohistochemical analysis, the mechanism by which this mutation impairs the canalicular transport of conjugated bilirubin remains unclear. Login to comment 67 ABCC2 p.Arg393Trp The effect of 1177CϾT (Arg393Trp) on the maturation or function of the MRP2 protein should be determined in the near future, by establishing stably transfected cells expressing the mutant protein. Login to comment