ABCMdb

PMID: 25346718

Escalante-Santiago D, Feria-Romero IA, Ribas-Aparicio RM, Rayo-Mares D, Fagiolino P, Vazquez M, Escamilla-Nunez C, Grijalva-Otero I, Lopez-Garcia MA, Orozco-Suarez S
MDR-1 and MRP2 Gene Polymorphisms in Mexican Epileptic Pediatric Patients with Complex Partial Seizures.
Front Neurol. 2014 Oct 9;5:184. doi: 10.3389/fneur.2014.00184. eCollection 2014., [PubMed]

Sentences

No. Mutations Sentence Comment

27 ABCB1 p.Gly1249Ala The MRP2 transporter protein recognizes CBZ, LTG, and FBM; its most relevant polymorphisms are rs2273697 (G1249A) and rs3740066 (C3972T). Login to comment 95 ABCC2 p.Ile1324Ser The AGT and AGC triplets produce an amino acid change (Ile1324Ser, Figure 1A); these occur Table 3 | Genotype and allelic relative frequencies of SNPs, MAF value, amino acid changes, and OR found in ABCB1 and ABCC2 genes. Gene SNP Sample Allele frequency Genotype frequency MAF Protein association Odds ratio aa, change Localization Allele Genotype Heterozogous Homozygous ABCB1 rs2214102 CTR G = 1.000 G/G = 1.000 A = 0.040/88 50UTR region [G] ࢒ [A], 2.446 [GG] ࢒ [GA], 2.692 [GG] ࢒ [AA], 0.385 ADR G = 0.971 G/G = 0.955 A = 0.029 G/A = 0.045 rs2229109 CTR G = 1.000 G/G = 1.000 A = 0.017/36 400; G >A; Ser >Asn Cytoplasmatic; binding site; Second domain [G] ࢒ [A], 1.706 [GG] ࢒ [GA], 1.829 [GG] ࢒ [AA], 0.366 ADR G = 0.955 G/G = 0.909 A = 0.045 G/A = 0.091 rs1128503 CTR T = 0.571 C/T = 0.571 T = 0.422/919 412; T > C; Gly > Gly Cytoplasmatic; beta chain; second domain [T] ࢒ [C], 1.543 [TT] ࢒ [TC], 1.200 [TT] ࢒ [CC], 3.000 C = 0.429 T/T = 0.286 C/C = 0.143 ADR T = 0.455 C/T = 0.545 C = 0.545 T/T = 0.182 C/C = 0.273 rs2032582 CTR G = 0.500 G/T = 0.429 A = 0.340/741 893; T >A; Ser >Thr Cytoplasmatic; Alfa-helix chain; third domain [T] ࢒ [A], 2.143 [TT] ࢒ [TA], 2.778 [TT] ࢒ [AA], 0.526 T = 0.500 G/G = 0.286 893; T > G; Ser >Ala T/T = 0.286 [T] ࢒ [G], 1.375 [TT] ࢒ [TG], 1.333 [TT] ࢒ [GG], 1.750 ADR G = 0.523 G/T = 0.364 T = 0.409 G/G = 0.318 A = 0.068 T/T = 0.182 A/G = 0.045 A/T = 0.091 rs1045642 CTR T = 0.429 TT = 0.143 T = 0.397/864 1145; T > C Ile > Ile Cytoplasmatic, fourth domain [T] ࢒ [C], 0.825 [TT] ࢒ [TC], 0.500 [TT] ࢒ [CC], 0.600 C = 0.571 TC = 0.571 CC = 0.286 ADR T = 0.475 TT = 0.255 C = 0.525 TC = 0.450 CC = 0.300 rs2235047 CTR T = 0.857 TT = 0.714 G = 0.179/389 Intron between 25 and 26 exon [T] ࢒ [G], 1.020 [TT] ࢒ [TG], 1.026 [TT] ࢒ [GG], 0.407 G = 0.143 TG = 0.286 ADR T = 0.800 TT = 0.600 G = 0.200 TG = 0.400 (Continued) Table 3 | Continued Gene SNP Sample Allele frequency Genotype frequency MAF Protein association Odds ratio aa, change Localization Allele Genotype Heterozogous Homozygous rs2235048 CTR C = 0.429 CC = 0.143 C = 0.398/867 Intron between 25 and 26 exon [C] ࢒ [T], 0.682 [CC] ࢒ [CT], 0.417 [CC] ࢒ [TT], 0.417 T = 0.571 CT = 0.571 TT = 0.286 ADR C = 0.525 CC = 0.300 T = 0.472 CT = 0.450 TT = 0.250 ABCC2 66744 T > G CTR T = 1.000 T/T = 1.000 No reported 1323; T > G; Ile > Ser Cytoplasmatic region, fourth domain [T] ࢒ [G], 4.038 [TT] ࢒ [TG], 4.1714 [TT] ࢒ [GG], 0.429 ADR T = 0.890 T/T = 0.770 G = 0.110 T/A = 0.230 rs3740066 CTR C = 0.928 C/C = 0.857 T = 0.304/663 1324; C >T; Ile > Ile Cytoplasmatic region, fourth domain [C] ࢒ [T], 4.875 [CC] ࢒ [CT], 2.769 [CC] ࢒ [TT], 3.370 T = 0.072 C/T = 0.143 ADR C = 0.727 C/C = 0.591 T = 0.273 C/T = 0.273 T/T = 0.136 68049 T >A CTR T = 0.790 TT = 0.570 No reported 1373; T >A; Leu > His Cytoplasmatic region, fourth domain [T] ࢒ [A], 0.733 [TT] ࢒ [TA], 0.667 [TT] ࢒ [AA], 0.310 A = 0.210 TA = 0.430 ADR T = 0.840 TT = 0.680 A = 0.160 TA = 0.320 67967C >A CTR C = 0.500 CA = 1.000 No reported 1342; C >A; Ser > Ser Cytoplasmatic region, fourth domain [C] ࢒ [A], 0.760 [CC] ࢒ [CA], 0.371 [CC] ࢒ [AA], 0.143 A = 0.500 ADR C = 0.570 CC = 0.140 A = 0.430 CA = 0.860 68072C >A CTR C = 0.500 CA = 1.000 No reported 1381; C >A; Pro >Thr Cytoplasmatic region, fourth domain [C] ࢒ [A], 0.750 [CC] ࢒ [CA], 0.352 [CC] ࢒ [AA], 0.143 A = 0.500 ADR C = 0.590 CC = 0.180 A = 0.410 CA = 0.820 68088 G > C CTR G = 0.710 GG = 0.710 No reported Intron between 29 and 30 [G] ࢒ [C], 0.147 [GG] ࢒ [GC], 0.314 [GG] ࢒ [CC], 0.147 C = 0.290 CC = 0.290 ADR G = 0.890 GG = 0.840 C = 0.110 CC = 0.160 Relative frequencies are presented for the five SNPs reported on NCBI Gene Bank database of ABCB1 and ABCC2 genes among 14 controlled and 44 drug-resistant patients (2n), obtained by direct sequencing. Login to comment 96 ABCC2 p.Ile1324Ser The AGT and AGC triplets produce an amino acid change (Ile1324Ser, Figure 1A); these occur Table 3 | Genotype and allelic relative frequencies of SNPs, MAF value, amino acid changes, and OR found in ABCB1 and ABCC2 genes. Gene SNP Sample Allele frequency Genotype frequency MAF Protein association Odds ratio aa, change Localization Allele Genotype Heterozogous Homozygous ABCB1 rs2214102 CTR G = 1.000 G/G = 1.000 A = 0.040/88 50UTR region [G] ࢒ [A], 2.446 [GG] ࢒ [GA], 2.692 [GG] ࢒ [AA], 0.385 ADR G = 0.971 G/G = 0.955 A = 0.029 G/A = 0.045 rs2229109 CTR G = 1.000 G/G = 1.000 A = 0.017/36 400; G >A; Ser >Asn Cytoplasmatic; binding site; Second domain [G] ࢒ [A], 1.706 [GG] ࢒ [GA], 1.829 [GG] ࢒ [AA], 0.366 ADR G = 0.955 G/G = 0.909 A = 0.045 G/A = 0.091 rs1128503 CTR T = 0.571 C/T = 0.571 T = 0.422/919 412; T > C; Gly > Gly Cytoplasmatic; beta chain; second domain [T] ࢒ [C], 1.543 [TT] ࢒ [TC], 1.200 [TT] ࢒ [CC], 3.000 C = 0.429 T/T = 0.286 C/C = 0.143 ADR T = 0.455 C/T = 0.545 C = 0.545 T/T = 0.182 C/C = 0.273 rs2032582 CTR G = 0.500 G/T = 0.429 A = 0.340/741 893; T >A; Ser >Thr Cytoplasmatic; Alfa-helix chain; third domain [T] ࢒ [A], 2.143 [TT] ࢒ [TA], 2.778 [TT] ࢒ [AA], 0.526 T = 0.500 G/G = 0.286 893; T > G; Ser >Ala T/T = 0.286 [T] ࢒ [G], 1.375 [TT] ࢒ [TG], 1.333 [TT] ࢒ [GG], 1.750 ADR G = 0.523 G/T = 0.364 T = 0.409 G/G = 0.318 A = 0.068 T/T = 0.182 A/G = 0.045 A/T = 0.091 rs1045642 CTR T = 0.429 TT = 0.143 T = 0.397/864 1145; T > C Ile > Ile Cytoplasmatic, fourth domain [T] ࢒ [C], 0.825 [TT] ࢒ [TC], 0.500 [TT] ࢒ [CC], 0.600 C = 0.571 TC = 0.571 CC = 0.286 ADR T = 0.475 TT = 0.255 C = 0.525 TC = 0.450 CC = 0.300 rs2235047 CTR T = 0.857 TT = 0.714 G = 0.179/389 Intron between 25 and 26 exon [T] ࢒ [G], 1.020 [TT] ࢒ [TG], 1.026 [TT] ࢒ [GG], 0.407 G = 0.143 TG = 0.286 ADR T = 0.800 TT = 0.600 G = 0.200 TG = 0.400 (Continued) Table 3 | Continued Gene SNP Sample Allele frequency Genotype frequency MAF Protein association Odds ratio aa, change Localization Allele Genotype Heterozogous Homozygous rs2235048 CTR C = 0.429 CC = 0.143 C = 0.398/867 Intron between 25 and 26 exon [C] ࢒ [T], 0.682 [CC] ࢒ [CT], 0.417 [CC] ࢒ [TT], 0.417 T = 0.571 CT = 0.571 TT = 0.286 ADR C = 0.525 CC = 0.300 T = 0.472 CT = 0.450 TT = 0.250 ABCC2 66744 T > G CTR T = 1.000 T/T = 1.000 No reported 1323; T > G; Ile > Ser Cytoplasmatic region, fourth domain [T] ࢒ [G], 4.038 [TT] ࢒ [TG], 4.1714 [TT] ࢒ [GG], 0.429 ADR T = 0.890 T/T = 0.770 G = 0.110 T/A = 0.230 rs3740066 CTR C = 0.928 C/C = 0.857 T = 0.304/663 1324; C >T; Ile > Ile Cytoplasmatic region, fourth domain [C] ࢒ [T], 4.875 [CC] ࢒ [CT], 2.769 [CC] ࢒ [TT], 3.370 T = 0.072 C/T = 0.143 ADR C = 0.727 C/C = 0.591 T = 0.273 C/T = 0.273 T/T = 0.136 68049 T >A CTR T = 0.790 TT = 0.570 No reported 1373; T >A; Leu > His Cytoplasmatic region, fourth domain [T] ࢒ [A], 0.733 [TT] ࢒ [TA], 0.667 [TT] ࢒ [AA], 0.310 A = 0.210 TA = 0.430 ADR T = 0.840 TT = 0.680 A = 0.160 TA = 0.320 67967C >A CTR C = 0.500 CA = 1.000 No reported 1342; C >A; Ser > Ser Cytoplasmatic region, fourth domain [C] ࢒ [A], 0.760 [CC] ࢒ [CA], 0.371 [CC] ࢒ [AA], 0.143 A = 0.500 ADR C = 0.570 CC = 0.140 A = 0.430 CA = 0.860 68072C >A CTR C = 0.500 CA = 1.000 No reported 1381; C >A; Pro >Thr Cytoplasmatic region, fourth domain [C] ࢒ [A], 0.750 [CC] ࢒ [CA], 0.352 [CC] ࢒ [AA], 0.143 A = 0.500 ADR C = 0.590 CC = 0.180 A = 0.410 CA = 0.820 68088 G > C CTR G = 0.710 GG = 0.710 No reported Intron between 29 and 30 [G] ࢒ [C], 0.147 [GG] ࢒ [GC], 0.314 [GG] ࢒ [CC], 0.147 C = 0.290 CC = 0.290 ADR G = 0.890 GG = 0.840 C = 0.110 CC = 0.160 Relative frequencies are presented for the five SNPs reported on NCBI Gene Bank database of ABCB1 and ABCC2 genes among 14 controlled and 44 drug-resistant patients (2n), obtained by direct sequencing. Login to comment 105 ABCC2 p.Pro1381Thr For the SNC 67967C >A in exon 29, no amino acid change (Ser1342Ser) was observed due to nucleotide substitution (Figure 1B); however, SNC 68072C >A resulted in the amino acid change Pro1381Thr (Figure 1D). Login to comment 106 ABCC2 p.Pro1381Thr For the SNC 67967C >A in exon 29, no amino acid change (Ser1342Ser) was observed due to nucleotide substitution (Figure 1B); however, SNC 68072C >A resulted in the amino acid change Pro1381Thr (Figure 1D). Login to comment 107 ABCC2 p.Leu1373His The SNC 68049T >A in exon 29 resulted in a Leu1373His change (Figure 1C); this allele was heterozygous (0.43 in the CTR group, 0.32 in the ADR group), but the wild-type allele predominated in both groups (>50%). Login to comment 108 ABCC2 p.Leu1373His The SNC 68049T >A in exon 29 resulted in a Leu1373His change (Figure 1C); this allele was heterozygous (0.43 in the CTR group, 0.32 in the ADR group), but the wild-type allele predominated in both groups (>50%). 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