Table 1 Polymorphisms in ATPase and ND1 genes of diabetic samples in Mizo population
Gene name | Frequency of mutationa (%) | Reference nucleotide | Nucleotide change | Nomenclature of mutation | Codon number | Codon position | Syn/Non syn | Codon change | Amino acid substitution | Reported/Disease caused | Polyphen2 score |
|---|---|---|---|---|---|---|---|---|---|---|---|
ATP8 | 9.09 | C | C > T | 8414 C > T | 17 | 1 | Non-Syn | CTC > TTC | L > F | Reported for prostate cancer. Not for diabetes | 0.99 (probably damaging) |
ATP6 | 18.18 | G | G > A | 8584 G > A | 20 | 1 | Non-Syn | GCA > ACA | A > T | 0.073 (Benign) | |
9.09 | T | T > C | 8602 T > C | 26 | 1 | Non-syn | TTT > CTT | F > L | 0.015 (Benign) | ||
9.09 | G | G > A | 8616 G > A | 30 | 3 | Syn | TTG > TTA | L > L | Reported for normal variation | --- | |
18.18 | A | A > G | 8701 A > G | 59 | 1 | Non-syn | ACC > GCC | T > A | Reported for diabetes | 0.002 (Benign) | |
9.09 | G | G > A | 8790 G > A | 88 | 3 | Syn | CTG > CTA | L > L | Reported for breast cancer. Not for Diabetes | --- | |
ND1 | 9.09 | G | G > A | 3316 G > A | 4 | 1 | Non-syn | GCC > ACC | A > T | Reported for diabetes | 0.00 (Benign) |
9.09 | T | T > C | 3394 T > C | 30 | 1 | Non-syn | TAT > CAT | Y > H | 0.021 (Benign) | ||
9.09 | T | T > A | 3552 T > A | 82 | 3 | Syn | GCT > GCA | A > A | --- | ||
36.36 | C | C/T > T/C | 3970 C > T | 222 | 1 | Syn | CTA > TTA | L > L | --- | ||
9.09 | A | A > G | 4065 A > G | 253 | 3 | Syn | GAA > GAG | E > E | --- | ||
27.27 | C | C/T > T/C | 4149 C > T | 281 | 3 | Syn | CGC > CGT | R > R | Reported for breast cancer | --- |