Molecular Vision: Gaier, Mol Vis 2017; 23:548-560. Table 2

Table 2. Pathogenicity data for novel OPA1 point mutations.

N	Mutation Type	Nucleotide Change	Mutation	MAF (ExAC)	SIFT/Polyphen2	Mutation Taster	GERP
1	Missense	chr3:193,355,778, G>A	Ser358Asn	NP	0.00/1.00 D/PD	DC	5.6
1	Missense	chr3:193,361,782, A>G	Glu499Gly	NP	0.00/1.00 D/PD	DC	5.8
1	Insert/Delete	chr3:193,372,737–8, ins T	Asn700 (727X)	NP	NA	DC	NA
1	Insert/Delete	chr3:193,380,737, del G	Val883 (883X)	NP	NA	DC	NA

Abbreviations: MAF (minor allele frequency); ExAC (Exome aggregate consortium); GERP (Genomic evolutionary rate profile).SIFT results are D Damaging; Polyphen2 results are PD, Probably Damaging; Mutation Taster results are DC, disease causing. Mutation Taster scores are only provided for missense alleles. GERP values range from −12.3 to 6.17, with the positive values representing higher degrees of evolutionary conservation. GERP scores are only applicable to missense alleles. The PolyPhen-2 score is reported as a range from 1.0 to 0.0 with the threshold for “probably damaging” from 1.0 to 0.85, “possibly damaging” from 0.85 to 0.20, and less than 0.20 is designated as “benign.” Sift scores ranges from 0 to 1, and ‘damaging’ are scores less than 0.05, while ‘tolerated’ are scores >0.05. Mutation Taster scores range from 0.0 to 215 and is based on the Grantham Matrix.