ABCMdb

PMID: 12769780

Toffoli G, Cecchin E, Corona G, Boiocchi M
Pharmacogenetics of irinotecan.
Curr Med Chem Anticancer Agents. 2003 May;3(3):225-37., [PubMed]

Sentences

No. Mutations Sentence Comment

189 ABCB1 p.Gly211Ala The mutation G211A (UGT1A1*6) has a meaningful role in the Asian population where is more widespread than in Caucasians [86]. Login to comment 190 ABCB1 p.Gly211Ala UGT1A1*6 allele is characterised by a mutation on exon 1 (G211A) so it has an effect on the protein sequence leading to the aminoacid substitution Gly71Arg. Login to comment 217 ABCB1 p.Gly211Ala UGT1A1 Polymorphisms Involved in Gilbert Syndrome Polymorphism Mutation Effect Location UGT1A1*28 (TA)6→(TA)7 lower expression Promoter UGT1A1*6 G211A Gly71Arg Exon 1 UGT1A1*27 C686A Pro229Gln Exon1 UGT1A1*29 C1099G Arg367Gly Exon 4 UGT1A1*7 T1456G Tyr486Asp Exon 5 tissues and a sequence homology of 49% only [91]. Login to comment 244 ABCC5 p.Gly1249Ala Two of them, one (C24T) located in the promoter of the gene, and one (G1249A) on exon 10, showed a considerable allelic frequency (12.326.1%, and 18.3-31.2%, respectively depending on the Jewish ethnic group) [9] but their effect on MRP2 activity is still unknown. Login to comment 261 ABCB1 p.Ser400Asn ABCB1 p.Phe103Leu ABCC12 p.Thr307Cys Also T307C and G1199A are mutations causing a significant aminoacid change (Phe103Leu and Ser400Asn respectively) in important zones of the protein and possibly affecting the P-gp efficacy. Login to comment