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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