ABCMdb

PMID: 11495756

Brinkmann U, Roots I, Eichelbaum M
Pharmacogenetics of the human drug-transporter gene MDR1: impact of polymorphisms on pharmacotherapy.
Drug Discov Today. 2001 Aug 15;6(16):835-839., [PubMed]

Sentences

No. Mutations Sentence Comment

53 ABCB1 p.Asn21Asp For example, SNPs that change amino acids, and thus possibly have an effect on protein function, are located at position A61G (replacement of Asn with Asp at position 21 of exon 2 of Pgp), a Phe-Leu change in position 103 next to the second TMD close to a glycosylation site, and a G1199A SNP in exon 11, which causes a Ser-Asn size- and charge- change close to the first ATP-binding domain. Login to comment 68 ABCB1 p.Ser400Asn ABCB1 p.Asn21Asp ABCB1 p.Phe103Leu ABCB1 p.Ala999Thr Single nucleotide polymorphisms (SNPs) in the MDR1 gene SNP Region Number Frequency of SNPsa [%] Effect Heterozygous Homozygous Observed Estimated T-12C E1 85 11.8 0 0.4 Non-coding G-1A E2 188 11.2 0 0.4 Translation initiation A61G E2 188 17.6 0.5 0.81 Asn21Asp G-25T I4 85 26.0 3.5 2.3 G-35C I4 85 1.2 0 0.01 T307C E5 85 1.2 0 0.01 Phe103Leu C+139T I5 85 48.2 16.5 16.8 C+145T I5 85 2.4 0 0.01 G1199A E11 85 12.9 0 0.4 Ser400Asn C1236T E12 188 48.9 13.3 14.4 Gly412Gly C+44T I12 188 11.7 0 0.4 T-76A I16 85 45.9 22.4 20.3 A+137G I17 85 1.2 0 0.01 G2677T E21 83b 43.4 42.2 38.4 Ala893Ser G2995A E24 36b 11.1 0 Ala999Thr C3435T E26 537 47.7 26.4 24.1 Ile1145Ile C3396T E26 188 0.53 0 0.01 Wobble aMDR1 sequences Genbank (gb) accession numbers AC002457 and AC005068 are defined as wildtype. Login to comment