ABCMdb

PMID: 18370847

Oertel B, Lotsch J
Genetic mutations that prevent pain: implications for future pain medication.
Pharmacogenomics. 2008 Feb;9(2):179-94., [PubMed]

Sentences

No. Mutations Sentence Comment

159 ABCB1 p.Ser893Ala ABCB1 p.Ser893Ala Protein Chromosome Gene Gene position Variant as given in respective publications (reference ID if available) Transcriptional effect Minorallele frequency (%) Ref. MC1R 16q24.3 MC1R Exon 1 451C>T (rs1805007) Arg151-to-Cys (R151C) 2 [78] Exon 1 478C>T (rs1805008) Arg160-to-Trp (R160W) 2 Exon 1 880G>C (rs1805009) Asp294-to-His (D294H) - - 29insA - 2 Exon 1 178G>T (rs1805005) Val60-to-Leu (V60L) - Exon 1 252C>A (rs1805006) Asp84-to-Glu (D84E) - Exon 1 274G>A (rs2228479) Val92-to-Met (V92M) - Exon 1 488G>A (rs885479) Arg163-to-Gln (R163Q) - COMT 22q11.21 COMT Exon 4 472G>A (rs4680) Val158-to-Met (V158M) - [110] CYP2D6 22q13.1 CYP2D6 Exon 5 *3 2549A>del 260X [111] 2 [92] Exon 4 *4 1846G>A 182X [111] 20.7 - *5 chromosomal gene deleted - 2 Exon 3 *6 1707T>del (rs5030655) Trp152-to-Ter (W152X) 0.9 Exon 6 *7 2935A>C (rs5030867) His324-to-Pro (H324P) 0.1 Exon 3 *8 1758G>T 169X [111] 0 - Gene duplication/amplification - 2 Exon 5 *9 2613-5delAGA (rs28371720) Lys281-to-del (K281del) 1.8 Exon 1 *10 100C>T,188C>T (rs1065852) Pro34-to-Ser (P34S) 1.5 Intron 6 *41 2988G>A (rs28371725) - 8.4 [112] ABCB1 7q21.1 ABCB1 Exon 12 1236C>T (rs1128503) Gly412-to-Gly (G412G) 44 [113] Exon 22 2677G>T/A (rs2032582) Ser893-toAla/Thr (S893A/T) 42(T), 0.5(A) Exon 27 3435C>T (rs1045642) Ile1145-to-Ile (I1145I) 50 Variants increasing the metabolism of prodrugs into active analgesics Cytochrome P450 2D6 gene Codeine has a 200-times lower affinity at µ-opioid receptors than morphine [89], and therefore its clinical effects largely depend upon its O-demethylation to morphine [9,10], which is mediated by CYP 2D6 [90], although some of its clinical effects appear to persist independently of morphine formation. Login to comment