ABCMdb

PMID: 15217301

Ieiri I, Takane H, Otsubo K
The MDR1 (ABCB1) gene polymorphism and its clinical implications.
Clin Pharmacokinet. 2004;43(9):553-76., [PubMed]

Sentences

No. Mutations Sentence Comment

41 ABCB1 p.Thr1236Cys [47] Membrane-spanning domain 1 Nucleotide binding domain 1 Membrane-spanning domain 2 Nucleotide binding domain 2 1 1280 Asn21࢐Asp Glu108࢐Lys Ser400࢐Asn Ala893࢐Thr/Ser Met986࢐Val Gln1107࢐Pro ATP site ATP site Phe103࢐Leu Asn183࢐Ser Arg492࢐Cys Ser1141࢐Thr T1236C C3396T C3435T Fig. 1. Login to comment 66 ABCB1 p.Glu108Lys Indeed, we recently observed a novel non-synonymous mutation (Glu108Lys) in Japanese subjects. Login to comment 80 ABCB1 p.Thr1236Cys [Note: Tables II and III are a continuation of table I] Ethnic background Subject C+139T C+145T A548G G1199A T1236C C+44T C1474T T-76A A+137G (183N࢐S) (400S࢐N) (492R࢐C) C/T C/T A/G G/A T/C C/T C/T T/A A/G Asian/Oceanian Japanese (n = 100) [10] Placental cDNA 1.00/0 1.00/0 0.65/0.35 1.00/0 Japanese (n = 114) [55] Volunteers Chinese (n = 92-104) [54] Neonates (umbilical cords) 0.69/0.31 Chinese (n = 96-132) [56,57] Volunteers/blood donors 0.72/0.28 Filipino (n = 60) [56] Volunteers/blood donors Indian (n = 61-68) [54] Neonates (umbilical cords) 0.61/0.39 Indian (n = 87) [57] Volunteers 0.67/0.33 Malay (n = 80-93) [54] Neonates (umbilical cords) 0.69/0.31 Malay (n = 92) [57] Volunteers 0.66/0.34 Southwest (n = 89) [56] Volunteers/blood donors Middle East Saudi (n = 96) [56] Volunteers/blood donors African Ghanaian Volunteers/blood donors (n = 172-206) [56,58] Kenyan (n = 80) [56] Volunteers/blood donors Sudanese (n = 51) [56] Volunteers/blood donors African American African American Volunteers/blood donors 1.00/0 1.00/0 1.00/0 (n = 23-88) [52,56] Caucasian Caucasian German Volunteers 0.63/0.37 0.94/0.06 0.41/0.59 0.95/0.05 0.54/0.46 (n = 461) [51] Caucasian UK (n = 190) [56] Volunteers/blood donors Portuguese (n = 100) [56] Volunteers/blood donors Italian (n = 106) [59] Control for Parkinson`s disease Caucasian (n = 537) [3] Control for renal tumours Caucasian (n = 37-188) [9,52] Volunteers 0.59/0.41 0.99/0.01 0.99/0.01 (0.94-0.95)/ 0.62/0.38 0.94/0.06 0.99/0.01 0.55/0.45 0.99/0.01 (0.05-0.06) Continued next page or the volume of distribution at steady state. Login to comment 91 ABCB1 p.Thr1236Cys Contd Ethnic background Subject C+139T C+145T A548G G1199A T1236C C+44T C1474T T-76A A+137G (183N࢐S) (400S࢐N) (492R࢐C) C/T C/T A/G G/A T/C C/T C/T T/A A/G Specific patient groups Japanese (n = 17) [6] LDLT recipients 1.00/0 1.00/0 0.62/0.38 1.00/0 1.00/0 Japanese (n = 68-69) [7] LDLT recipients 0.37/0.63 1.00/0 0.65/0.35 1.00/0 0.68/0.32 Italian (n = 25) [59] Early onset Parkinson`s disease Italian (n = 70) [59] Late onset Parkinson`s disease Caucasian New Zealand Depressed patients (n = 160) [1] Caucasian (n = 124) [60] Renal transplant recipients Caucasian (n = 212) [3] Renal epithelial tumours LDLT = living donor liver transplantation. Login to comment 162 ABCB1 p.Ser400Asn ABCB1 p.Asn21Asp ABCB1 p.Phe103Leu [94] Recently, a new mechanism for the drug- Sarfaty et al.[89] also investigated functional conse- grapefruit juice interaction has been reported; the quences of MDR1 polymorphisms (Asn21Asp, bioavailability and serum concentrations of fex- Phe103Leu, Ser400Asn, Ala893Ser, and ofenadine were reduced when grapefruit juice was Ala998Thr) using a vaccinia virus-based transient taken. Login to comment 365 ABCB1 p.Glu108Lys Overlapping substrate specifici- gene in healthy Japanese subjects: a novel SNP with an amino- ties and tissue distribution of cytochrome P4503A4 and p- acid substitution (Glu108Lys). Login to comment