ABCMdb

PMID: 19916993

Mukonzo JK, Roshammar D, Waako P, Andersson M, Fukasawa T, Milani L, Svensson JO, Ogwal-Okeng J, Gustafsson LL, Aklillu E
A novel polymorphism in ABCB1 gene, CYP2B6*6 and sex predict single-dose efavirenz population pharmacokinetics in Ugandans.
Br J Clin Pharmacol. 2009 Nov;68(5):690-9., [PubMed]

Sentences

No. Mutations Sentence Comment

119 ABCB1 p.Ser400Asn ABCB1 p.Ile261Val ABCB1 p.Ala80Glu ABCB1 p.Ala599Thr 785 A→G rs2279343 CYP2B6*4, *6, *7, *13, *16 *19, *20 K262R Reduced expression and activity 36.4 c.516 G→T rs3745274 CYP2B6*6, *7, *9, *13, *19, *20 Q172H Reduced expression and activity 35.6 c.136A→G rs35303484 CYP2B6*11 M46V Phenotypic null allele 13.6 c.983 T→C rs28399499 CYP2B6*16, *18 I328T Phenotypic null allele 10.4 c.64 C→T rs8192709 CYP2B6*2 R22C Phenotypic null allele 8.0 c.1282 C→T rs35010098 CYP2B6*21 P428T Phenotypic null allele 1.1 exon 8/-6 C→T rs35449271 New SNP Undetermined 32.0 296 G→A rs36060847 CYP2B6*12 G99E Reduced expression 3.6 1375 A→G rs3211369 CYP2B6*23 M459V Unknown 24.0 c.1172 T→A rs35979566 CYP2B6*15 I391N Reduced expression 7.7 CYP3A5 g.27289C→A rs28365083 CYP3A5*2 T398N Unknown 0 g.6986A→G rs776746 CYP3A5*3 Splicing defect Phenotypic null allele 18.2 g.14665A→G CYP3A5*4 Q200R Unknown 8.6 g.14690G→A CYP3A5*6 Splicing defect Phenotypic null allele 17.2 g.27131-27132insT rs241303343 CYP3A5*7 346 frame shift Phenotypic null allele 18.4 g.3699C→T rs28371764 CYP3A5*8 R28C Phenotypic null allele 0 g.19386G→A rs28383479 CYP3A5*9 A337T Decreased activity 11.4 ABCB1 c.1236 C→T rs1128503 Gly412Gly Phenotypic null allele 11.9 c.2677 G/A→T rs2032582 Ala/Thr893 Ser Phenotypic null allele 3.7 c.3435 T/C rs1045642 Ile1145Ile Phenotypic null allele 4.8 c.4036 A/G rs3842 New SNP 3' UTR Undetermined 16.8 c.1659 G→C rs2235012 Leu554Leu 1.1 exon 6/+139 C→T rs1202168 New SNP - Undetermined 18.6 exon 19/-88 T→C rs4728699 New SNP - Undetermined 7.7 c.781A→G rs36008564 Ile261Val 6.9 c.239C→A rs9282565 Ala80Glu 2.8 exon 12/+44 C→T rs20328588 New SNP Intron 13 Undetermined 5.1 c.1199G→A rs2229109 Ser400Asn 2.6 c.1795C→T rs2235036 Ala599Thr 7.0 exon 20/+24 G→A rs2235040 New SNP - Undetermined 4.6 *Position based on cDNA numbering (c. Login to comment