ABCMdb

ABCB1 p.Pro66Ser

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Publications

PMID: 17404718 [PubMed] King CR et al: "Identification of NR1I2 genetic variation using resequencing."

No. Sentence Comment

96 Table 2 Validated NR1I2 allele frequencies NR1I2 -2098 C>T NR1I2 -566 A>C NR1I2 -205[GAGAAG] NRI12 IVS2+55 A>G NR1I2 IVS2+78 A>G NR1I2 IVS6-17 C>T NR1I2 +1792 A>G European African European African European African European African European African European African European African n 89 94 82 94 77 82 75 92 89 94 92 92 95 89 Wt 31 80 28 74 27 42 39 88 40 55 65 31 64 45 Het 48 14 43 20 40 27 30 4 30 34 25 49 29 36 Var 10 0 11 0 10 13 6 0 19 5 2 12 2 8 p c-0.62 c-0.07 a-0.60 a-0.11 [+] 0.61 [+] 0.68 a-0.72 a-0.02 a-0.62 a-0.23 c-0.84 c-0.60 a-0.83 a-0.29 q t-0.38 t-0.93 c-0.40 c-0.89 [-] 0.39 [-] 0.32 g-0.28 g-0.98 g-0.38 g-0.77 t-0.16 t-0.40 g-0.17 g-0.71 n Number of subjects, wt wild type, het heterozygote, var variant, p wild-type allele frequency, q variant allele frequency, [+] presence of indel, [-] absence of indel Table 3 Genetic variants in NR1I2 with allele frequencies above 10% Allele frequency SNP location [alternative name] SNP Source African American European Asian -3151 C/T Resequencing 0.16 T 0.0 T 0.0 T -2797 T/C Resequencing 0.43 C 0.0 C 0.0 C -2098 T/C Resequencing 0.28 C 0.70 C 0.67 C -1997 G/A Resequencing 0.16 A 0.0 A 0.01 A -1570 [-25385] C/T [34] 0.32 T 0.39 T N/E -1570 [-25385] C/T [4] N/E 0.36 T N/E -1570 C/T Resequencing 0.34 T 0.50 T 0.21 T -941[-24756] G/A [34] 0.14 A 0.01 A N/E -941[-24756] G/A [4] N/E 0.01 A N/E -941 G/A Resequencing 0.13 A 0.0 A 0.0 A -566 [-24381] A/C [34] 0.73 C 0.41 C N/E -566 [-24381] A/C [4] N/E 0.54 C N/E -566 A/C Resequencing 0.50 C 0.69 C 0.33 C -298 [-24113] G/A [34] 0.32 A 0.39 A N/E -298 G/A Resequencing 0.32 A 0.41 A 0.28 A -205 [-206 DEL] -/GAGAAG [29] N/E N/E 0.72 GAGAAG IVS1-20 [-42] T/C [34] 0.23 C 0.0 C N/E IVS1-20 T/C Resequencing 0.10 C 0.0 C 0.063 C 196 [PXR*2; P66S] C/T [34] 0.20 T 0.0 T N/E 196 [PXR*2; P66S] C/T Resequencing 0.03 T 0.0 T 0.0 T 196 [PXR*2; P66S] C/T [13] 0.15 Ta 0.0 T N/E 196 [PXR*2; P66S] C/T [4] N/E 0.0 T N/E IVS2+55 [+252] A/G [34] 0.64 G 0.28 G N/E IVS2+55 [+252] A/G [4] N/E 0.34 G N/E IVS2+55 A/G Resequencing 0.76 G 0.25 G 0.40 G IVS2+78 A/G Resequencing 0.77 G 0.28 G 0.34 G IVS2+78 [+275] A/G [4] N/E 0.34 G N/E IVS4+285 [+4760] G/A [4] N/E 0.69 A N/E IVS5-93 [+7635] A/G [34] 0.77 G 0.35 G N/E IVS5-93 [+7635] A/G [4] N/E 0.32 G N/E IVS5-93 A/G Resequencing 0.80 G 0.33 G 0.48 G IVS5-53 [+7675] C/T [34] 0.05 T 0.04 T N/E IVS5-53 [+7675] C/T [4] N/E 0.05 T N/E IVS5-53 C/T Resequencing 0.25 T 0.0 T 0.0 T IVS6-17 [+8055] C/T [34] 0.18 T 0.15 T N/E IVS6-17 [+8055] C/T [4] N/E 0.16 T N/E IVS6-17 C/T Resequencing 0.20 T 0.39 T 0.51 T 1437 [+9976] G/A [34] 0.36 A 0.0 A N/E 1437 G/A Resequencing 0.05 A 0.0 A 0.02 A 1792 A/G Resequencing 0.69 G 0.33G 0.59 G 1792 [+10331] A/G [4] N/E 0.20 G N/E 1922 C/A Resequencing 0.06 A 0.0 A 0.10 A 1922 [+10461] C/A [4] N/E 0.12 A N/E 1944 T/C Resequencing 0.69 C 0.23 C 0.65 C 1944 [+10483] T/C [4] N/E 0.24 C N/E 2081 [+10620] C/T [34] 0.14 T 0.11 T N/E 2081 [+10620] C/T [4] N/E 0.08 T N/E 2081 C/T Resequencing 0.03 T 0.01 T 0.0 T 2180 [+10719] A/G [34] 0.0 G 0.05 G N/E 2180 [+10719] A/G [4] N/E 0.05 G N/E 2180 A/G Resequencing 0.18 G 0.0 G 0.0 G 2260 [+10799] G/A [34] 0.14 A 0.13 A N/E 2260 [+10799] G/A [4] N/E 0.12 A N/E 2260 G/A Resequencing 0.06 A 0.05 A 0.0 A 2617 [+11156] A/C [34] 0.33 C 0.16 C N/E 2617 A/C Resequencing 0.43 C 0.09 C 0.50 C 2654 [+11193] T/C [34] 0.30 C 0.16 C N/E 2654 T/C Resequencing 0.54 C 0.14 C 0.53 C 3104 G/A Resequencing 0.24 A 0.0A 0.06 A Previously published naming is included in brackets in the SNP location column [4, 13, 29, 34]. Login to comment
109 Only one of the six SNPs, P66S, had an allele frequency above 10% in the African population alone. Login to comment
110 P66S was not found to alter basal CYP3A4 and/or induce its transactivation (as were V179M, D202G, and A409T) [13]. Login to comment
111 Of the six polymorphisms examined, four were found to be specific to the African population (E57K, P66S, D202G, and A409T), and two were specific to the European population (G75R and V179M) [13]. Login to comment
112 Two of these six polymorphisms were found through resequencing in the current study (P66S and G75R). Login to comment
113 P66S was monomorphic in European and Asian populations, however allele frequencies of 0.20 T, 0.15 T, and 0.03 T were found in African and African American populations by Zhang et al [34], Hustert et al. [13], and resequencing, respectively. Login to comment