ABCMdb

PMID: 11258197

Kerb R, Hoffmeyer S, Brinkmann U
ABC drug transporters: hereditary polymorphisms and pharmacological impact in MDR1, MRP1 and MRP2.
Pharmacogenomics. 2001 Feb;2(1):51-64., [PubMed]

Sentences

No. Mutations Sentence Comment

97 ABCC1 p.Ala893Ser ABCB1 p.Ser400Asn ABCB1 p.Asn21Asp ABCB1 p.Phe103Leu ABCB1 p.Ala999Thr ABCD1 p.Ala61Gly SNP Region N Frequency of SNPs (%) 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 TL initiation A61G E2 188 17.6 0.5 0.81 Asn21Asp G-25T I4 85 26 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 38.4 Ala999Thr C3435T E26 537 47.7 26.4 24.1 Ile1145Ile C3396T E26 188 0.53 0 0.01 Wobble § MDR1 sequences gb:AC002457 and AC005068 are defined as 'wild type`. Login to comment 106 ABCB1 p.Asn21Asp ABCD1 p.Ala61Gly A61G leads to the replacement of Asn by Asp at position 21 resulting in a net charge change (basic to acidic) close to the N-terminus of PGP. Login to comment 108 ABCB1 p.Phe103Leu The substitution of Phe by Leu at position 103 (exon 5) is located next to the second TMDs on the extracellular side that is close to the glycosylation sites of the protein. Login to comment