Table 2 of Chen, Mol Vis 2013; 19:292-302.


Table 2. OPA1 mutations identified in the 12 Chinese families with optic atrophy.

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]