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Table 1 Polymorphisms in ATPase and ND1 genes of diabetic samples in Mizo population

From: Mitochondrial complex I and V gene polymorphisms in type II diabetes mellitus among high risk Mizo-Mongoloid population, Northeast India

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 ---
  1. aMutation frequency was calculated based on the total number of mutations obtained against the total number of cases