Table III.
Summary of optic atrophy 1 gene mutations and in silico scores.
| Domain | Nucleotide change | Amino acid changea |
in silico analysisb
|
GERP score | ||
|---|---|---|---|---|---|---|
| SIFT | PolyPhen2 | MUpro | ||||
| MID | c.1857–1858delinsT | L620fs*13 | – | – | – | 5.650 |
| GED | c.2714G>A | R905Q | 0.000c | 1.000c | −0.630c | 5.890 |
a
Nucleotide numbers are from NM_015560.2.
b
SIFT score ≤0.05, PolyPhen 2 score ~1, and MUpro score <0 indicate a prediction of pathogenicity.
c
Denotes a 'pathogenic' prediction. MID, middle domain; GED, GTPase effector domain; GERP, genomic evolutionary rate profiling score.