Table 2 of Chen, Mol Vis 2013; 19:292-302.
OPA1 | Patient ID | Nucleotide change | Amino acid change | Status | Conser vation | Computational prediction | Allele frequency in | Reported | |||
---|---|---|---|---|---|---|---|---|---|---|---|
Blosum62 | PolyPhen or Splice site | SIFT | cases | controls | |||||||
exon 2 | le1608 | c.49_50insGG | p.L17fs | Hetero | - | - | - | - | 1/386 | 0/384 | This study |
exon 2 | le2028 | c.190_194del | p.S64fs | Hetero | - | - | - | - | 1/386 | 0/384 | This study |
intron 9 | le2146 | c.985–1G>A | Splicing defect | Hetero | - | - | - | - | 1/386 | NA | Delettre et al. [40] |
exon 10 | le1524 | c.989C>G | p.T330S | Hetero | Yes | 5>1 | PrD | D | 1/386 | 0/384 | This study |
exon 10 | le1656 | c.991_992del | p.L331fs | Hetero | - | - | - | - | 1/386 | 0/384 | This study |
exon 11 | le2028 | c.1129G>A | p.V377I | Hetero | Yes | 4>3 | PrD | T | 1/386 | 0/384 | This study |
exon 21 | le1599 | c.2119G>T | p.E707* | Hetero | - | - | - | - | 1/386 | 0/384 | This study |
exon 24 | le1432 | c.2389A>T | p.K797* | Hetero | - | - | - | - | 1/386 | 0/384 | This study |
exon 24 | le1601 | c.2470C>T | p.R824* | Hetero | - | - | - | - | 1/386 | NA | Ferre et al. [21] |
intron 25 | le1574 | c.2614–2A>G | Splicing defect | Hetero | - | - | SSA | - | 1/386 | 0/384 | This study |
exon 27 | le1411, le1434, le2062 | c.2708_2711del | p.V903fs | Hetero | - | - | - | - | 3/386 | NA | Ferre et al. [21] |