Table 5 of Pathak, Mol Vis 2011; 17:1514-1525.

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

Pathak, Mol Vis 2011; 17:1514-1525. http://www.molvis.org/molvis/v17/a170

©2011 Molecular Vision http://www.molvis.org/molvis/

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