Table 5. Mitochondrial DNA sequence variations (non-synonymous) detected in KC patients.
| Sample number | Nucleotide substitution | Amino acid change | Change in protein | SIFT score | SIFT prediction | Polyphen score |
|---|---|---|---|---|---|---|
| 2 |
4216T>C |
Tyr>His |
p.Y304H |
0.82 |
Tolerant |
0.008 |
| 3 |
4917 A>G |
Asn>Asp |
p.N150D |
0.14 |
Tolerant |
0.006 |
| 4 |
5046 G>A |
Val>Ile |
p.V193I |
0.61 |
Tolerant |
0.000 |
| 5 |
4833 A>G |
Thr>Ala |
p.T122A |
0.10 |
Tolerant |
0.135 |
| 6 |
4682 C>A |
Leu>Ile |
p.L71I |
0.01 |
Pathogenic |
0.001 |
| 7 |
4696 T>C |
Phe>Ser |
p.F76S |
0.14 |
Tolerant |
0.000 |
| 8 |
5300T>T |
p.Ile277His fs X11 |
p.I287X |
|
|
|
| 9 |
5460 G>A |
Ala>Thr |
p.A331T |
0.37 |
Tolerant |
0.000 |
| 10 |
10084T>C |
Ile>Thr |
p.I9T |
0.49 |
Tolerant |
0.000 |
| 11 |
10398 G-A |
Ala>Thr |
p. A 114 T |
1.00 |
Tolerant |
0.000 |
| 12 |
11273G>C |
p.gly172AlafsX2 |
p.L174X |
|
|
|
| 13 |
11969G>A |
Ala>Thr |
p.A404T |
0.13 |
Tolerant |
0.000 |
| 14 |
12361A>G |
Thr>Ala |
p.T9A |
0.00 |
Pathogenic |
Not available |
| 15 |
12426C>A |
Asn>Lys |
p.N30L |
0.21 |
Tolerant |
0.899 |
| 16 |
12850G>A |
Val >Ile |
p. I172V |
1.00 |
Tolerant |
0.422 |
| 17 |
13637A>G |
Glu>Arg |
p.Q434R |
0.41 |
Tolerant |
0.008 |
| 18 | 13768T>C | Phe>Ile | p.F478I | 0.17 | Tolerant | 0.005 |