Allele and SNP | Location | Amino Acid Change | dbSNP ID | Functional Effect | Allele Frequency | ||
---|---|---|---|---|---|---|---|
Macedonians | Albanians | Romanies | |||||
– | – | – | normal | 0.365 | 0.370 | 0.330 | |
exon 2 exon 6 | Arg296Cys Ser486Thr | rs16947 rs1135840 | normal | 0.255 | 0.215 | 0.255 | |
exon 5 | frameshift | rs35742686 | none | 0.020 | 0.035 | 0.015 | |
intron 3 - exon 4 junction | splicing defect | rs3892097 | none | 0.170 | 0.225 | 0.150 | |
‒ | gene deletion | ‒ | none | 0.015 | 0.025 | 0.005 | |
‒ | frameshift | rs5030655 | none | 0.010 | 0.015 | 0.005 | |
‒ | Lys281del | rs5030656 | decreased | 0.000 | 0.005 | 0.005 | |
exon 1 | Pro34Ser | rs1065852 | decreased | 0.015 | 0.005 | 0.000 | |
exon 2 | Thr107Ile | rs28371706 | decreased | 0.000 | 0.000 | 0.000 | |
‒ | Arg36His | rs61736512 | decreased | 0.015 | 0.000 | 0.000 | |
‒ | Glu242Lys | rs28371725 | decreased | 0.110 | 0.105 | 0.230 | |
‒ | gene duplication | ‒ | increased | 0.020 | 0.000 | 0.005 | |
‒ | gene duplication | ‒ | increased | 0.005 | 0.005 | 0.000 |
Predicted | Genotype | Frequency in Macedonians (%) | Frequency in Albanians (%) | Frequency in Romanies (%) |
---|---|---|---|---|
0.01 | 0.00 | 0.00 | ||
0.03 | 0.00 | 0.01 | ||
0.01 | 0.01 | 0.00 | ||
0.14 | 0.15 | 0.13 | ||
0.20 | 0.13 | 0.17 | ||
0.00 | 0.00 | 0.01 | ||
0.02 | 0.00 | 0.00 | ||
0.01 | 0.00 | 0.00 | ||
0.01 | 0.00 | 0.00 | ||
0.05 | 0.08 | 0.12 | ||
0.06 | 0.05 | 0.07 | ||
0.01 | 0.02 | 0.00 | ||
0.05 | 0.03 | 0.17 | ||
0.01 | 0.03 | 0.01 | ||
0.13 | 0.17 | 0.07 | ||
0.02 | 0.02 | 0.01 | ||
0.00 | 0.02 | 0.01 | ||
0.09 | 0.12 | 0.02 | ||
0.01 | 0.00 | 0.00 | ||
0.00 | 0.01 | 0.00 | ||
0.03 | 0.02 | 0.03 | ||
0.00 | 0.01 | 0.00 | ||
0.04 | 0.04 | 0.09 | ||
0.01 | 0.00 | 0.00 | ||
0.01 | 0.00 | 0.00 | ||
0.01 | 0.00 | 0.00 | ||
0.00 | 0.01 | 0.02 | ||
0.00 | 0.01 | 0.00 | ||
0.01 | 0.00 | 0.00 | ||
0.00 | 0.01 | 0.00 | ||
0.00 | 0.03 | 0.00 | ||
0.03 | 0.03 | 0.06 |
Population | Refs | Functional | Non Functional | Reduced | Duplications | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
15 | 28.00 | 32.00 | 0.00 | 16.00 | 4.00 | 0.00 | 4.00 | 2.00 | 0.00 | 0.00 | 10.00 | 2.00 | 0.00 | |
15 | 28.60 | 35.70 | 1.80 | 21.40 | 1.80 | 0.00 | 0.00 | 5.40 | 0.00 | 0.00 | 3.60 | 0.00 | 1.80 | |
15 | 32.00 | 34.00 | 0.00 | 20.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 8.00 | 0.00 | 4.00 | |
32 | 36.40 | 32.40 | 2.00 | 20.70 | 2.00 | 0.90 | 1.80 | 1.50 | ‒ | ‒ | ‒ | 0.50 | 1.30 | |
29 | 76.50 | ‒ | 2.75 | 14.00 | 1.00 | 1.50 | ‒ | ‒ | ‒ | ‒ | ‒ | ‒ | 4.00 | |
30 | ‒ | ‒ | 2.30 | 17.84 | ‒ | ‒ | ‒ | ‒ | ‒ | ‒ | ‒ | ‒ | 6.01 | |
31 | ‒ | ‒ | 1.12 | 22.87 | 3.14 | 0.02 | ‒ | ‒ | ‒ | ‒ | ‒ | 3.14 | ‒ | |
15 | 35.70 | 20.40 | 0.00 | 5.10 | 4.10 | 2.00 | 0.00 | 0.00 | 3.10 | 0.00 | 22.40 | 1.00 | 2.00 | |
27 | 24.90 | 10.80 | 0.80 | 18.70 | 9.10 | 0.00 | 1.60 | 2.70 | ‒ | ‒ | 8.60 | 5.90 The article does not clearly explain on which alleles the duplications occur. | ||
This study. | ‒ | 36.50 | 25.50 | 2.00 | 17.00 | 1.50 | 1.00 | 0.00 | 1.50 | 0.00 | 1.50 | 11.00 | 2.00 | 0.50 |
This study. | ‒ | 37.00 | 21.50 | 3.50 | 22.50 | 2.50 | 1.50 | 0.50 | 0.50 | 0.00 | 0.00 | 10.50 | 0.00 | 0.50 |
This study. | ‒ | 33.00 | 25.40 | 1.50 | 15.00 | 0.50 | 0.50 | 0.50 | 0.00 | 0.00 | 0.00 | 23.00 | 0.50 | 0.00 |
Predicted Drug Metabolizing Phenotype UM: ultrarapid metabolizer; EM: extensive metabolizer; IM: intermediate metabolizer; PM: poor metabolizer. | Combination of Alleles |
---|---|
A combination of one normal activity allele with one increased activity allele | |
Two normal activity alleles; a combination of one increased activity allele with one decreased activity allele | |
A combination of one normal activity allele with one decreased activity allele; a combination of one increased activity allele with one null activity allele | |
One normal activity allele with one null activity allele; two decreased activity alleles | |
A combination of one decreased activity allele with one null activity allele | |
Only null activity alleles detected |