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