Table 2. Characteristics of identified OPA1 mutations.
| Family ID |
Mutation |
Exon |
Bioinformatics Analysis |
Reported /Novel | MAF | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| Nucleotide | Amino acid | Type | Status | SIFT | PolyPhen-2 | PROVEN | ||||
| OA01 |
c.968A>G |
p.Y323C |
missense |
Het |
E10 |
DA (0.000) |
PD (1.000) |
DE (−8.03) |
Novel |
- |
| OA02 |
c.193C>G |
p.L65V |
missense |
Het |
E2 |
DA (0.016) |
B (0.278) |
N (−0.63) |
Novel |
- |
| OA03 |
c.1499G>A |
p.R500H |
missense |
Het |
E16 |
DA (0.001) |
PD (1.000) |
DE (−4.70) |
CM030379 |
- |
| OA04 |
c.1800C>A |
p.S600R |
missense |
Het |
E19 |
DA (0.001) |
PD (1.000) |
DE (−4.64) |
CM061154 |
- |
| OA05 |
c.1071dupT |
p.T358* |
nonsense |
Het |
E11 |
- |
- |
- |
Novel |
- |
| OA06 |
c.1034G>A |
p.R345Q |
missense |
Het |
E10 |
DA (0.041) |
PD (0.978) |
DE (−3.50) |
CM002636 |
- |
| OA07 |
c.987_988del |
p.S331* |
nonsense |
Het |
E10 |
- |
|
- |
Novel |
- |
| OA08 |
c.2012+2T>G |
- |
splice site |
Het |
E22–23 |
- |
|
- |
Novel |
- |
| OA09 |
c.2873_2876del |
p.V958Gfs*2 |
frameshift |
Het |
E29 |
- |
|
- |
[26] |
4/121408 |
| OA10 |
c.1499G>A |
p.R500H |
missense |
Het |
E16 |
DA (0.001) |
PD (1.000) |
DE (−4.70) |
CM030379 |
- |
| OA11 |
c.112C>T |
p.R38* |
nonsense |
Het |
E2 |
- |
- |
- |
CM024785 |
- |
| OA12 |
c.1036–1G>C |
- |
splice site |
Het |
E10–11 |
- |
- |
- |
Novel |
- |
| OA13 |
c.2126A>G |
p.D709G |
missense |
Het |
E22 |
DA (0.001) |
PD (1.000) |
DE (−6.72) |
Novel |
- |
| OA14 |
c.804_805del |
p.K269Nfs*1 |
frameshift |
Het |
E8 |
- |
- |
- |
[27] |
- |
| OA15 | c.1036_1038del | p.V346del | deletion | Het | E11 | - | - | - | Novel | - |
Abbreviations: Het: heterozygous; DA: damaging; PD: probably damaging; B: benign; DE: deleterious; N: neutral; MAF: minor allele frequency.