ABCMdb

PMID: 11240981

Cascorbi I, Gerloff T, Johne A, Meisel C, Hoffmeyer S, Schwab M, Schaeffeler E, Eichelbaum M, Brinkmann U, Roots I
Frequency of single nucleotide polymorphisms in the P-glycoprotein drug transporter MDR1 gene in white subjects.
Clin Pharmacol Ther. 2001 Mar;69(3):169-74., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCB1 p.Ser400Asn ABCB1 p.Asn21Asp Results: Five amino acid exchanges were found with allelic frequencies of 11.2% for Asn21Asp and 5.5% for Ser400Asn. Login to comment 7 ABCB1 p.Gln1107Pro A novel missense Gln1107Pro mutation was found in two cases (0.2%). Login to comment 53 ABCB1 p.Asn21Asp A61G in exon 2,14 which resulted in an Asn21Asp exchange, occurred with an allele frequency of 11.2%; therefore only 4 individuals were homozygous carriers. Login to comment 54 ABCB1 p.Ser400Asn G1199A (Ser400Asn) appeared with a frequency of 5.5%. Login to comment 58 ABCB1 p.Gln1107Pro In addition, a novel amino acid exchange, Gln1107Pro exchange in exon 26 (A3320C), was identified heterozygously in 2 subjects with the use of denaturing HPLC. Login to comment 79 ABCB1 p.Phe103Leu Exon 5 T307C (Phe103Leu), which was found heterozygously in 2 individuals in our previous study,14 could not be identified in this large sample. Login to comment 81 ABCB1 p.Gln1107Pro An additional amino acid exchange was identified in exon 26; this led to a Gln1107Pro replacement heterozygously in 2 subjects. Login to comment 95 ABCB1 p.Phe103Leu With the use of a significantly larger sample of white volunteers, the previous data on allelic frequencies were confirmed, except for the Phe103Leu. Login to comment 96 ABCB1 p.Gln1107Pro Two further amino acid exchanges, Ala893Thr and Gln1107Pro, were identified. Login to comment