PMID: 20357698

Mukonzo JK, Waako P, Ogwal-Okeng J, Gustafsson LL, Aklillu E
Genetic variations in ABCB1 and CYP3A5 as well as sex influence quinine disposition among Ugandans.
Ther Drug Monit. 2010 Jun;32(3):346-52., [PubMed]
Sentences
No. Mutations Sentence Comment
79 ABCB1 p.Ser400Asn
X
ABCB1 p.Ser400Asn 20357698:79:459
status: NEW
view ABCB1 p.Ser400Asn details
ABCB1 p.Ile261Val
X
ABCB1 p.Ile261Val 20357698:79:331
status: NEW
view ABCB1 p.Ile261Val details
ABCB1 p.Ala80Glu
X
ABCB1 p.Ala80Glu 20357698:79:364
status: NEW
view ABCB1 p.Ala80Glu details
ABCB1 p.Ala599Thr
X
ABCB1 p.Ala599Thr 20357698:79:493
status: NEW
view ABCB1 p.Ala599Thr details
 T rs2032582 Ala/Thr893 Ser Altered activity 3.7 c.3435 C/T rs1045642 Ile1145Ile Altered activity 4.8 c.4036 A/G rs3842 New SNP 3` UTR Undetermined 16.8 c.1659 G.C rs2235012 Leu554Leu Detected only in blacks 1.1 Exon 6/ +139 C.T rs1202168 New SNP - Undetermined 18.6 Exon 19/-88 T.C rs4728699 - 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 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 6.7 g.14690G.A CYP3A5*6 Splicing defect Phenotypic null allele 17.2 g.27131-27132insT rs241303343 CYP3A5*7 346 frame shift Phenotypic null allele 11.4 g.3699C.T rs28371764 CYP3A5*8 R28C Phenotypic null allele 0 g.19386G.A rs28383479 CYP3A5*9 A337T Decreased activity 9.6 *Position based on cDNA numbering (c. Login to comment