Molecular Vision: Gaier, Mol Vis 2017; 23:548-560. Table 1

Table 1. Summary of OPA1 point mutations.

N	Mutation Type	Nucleotide Change	Protein Position	ExAC MAF	Reference	Neurologic Symptoms
1	Splice	chr3:193,360,552, A>G	IVS11–2 Splice	NP	[40]	None
1	Splice	chr3:193,355,072, T>A	IVS10+2 Splice	NP	Mavrogiannis LA, Clayton-Smith J, Charlton RS (unpublished)*, UK	None
1	Missense	chr3:193,332,823, C>T	Ala115Val	SA 0.00073 ENF 0.00026 Lat 0.00017	[11]	None
1	Missense	chr3:193,361,208, T>G	Leu451Arg	NP	[41]	Neuropathy
1	Missense	chr3:193,363,399, G>A	Val556Ile	NP	[8]	None
1	Missense	chr3:193,355,778, G>A	Ser358Asn	NP	Novel	None
1	Missense	chr3:193,361,782, A>G	Glu499Gly	NP	Novel	Hearing Loss, ophthalmoplegia, myopathy, ataxia
1	Nonsense	chr3:193,332,633, C>T	Arg52X	NP	[42]	Hearing Loss
1	Nonsense	chr3:193,374,986, C>T	Arg766X	NP	[15]	None
1	Insert/Delete	chr3:193,361,355–6, del TA	Thr472 (564X)	NP	[5]	Paresthesias
1	Insert/Delete	chr3:193,372,737–8, ins T	Asn700 (727X)	NP	Novel	None
1	Insert/Delete	chr3:193,380,737, del G	Val883 (883X)	NP	Novel	None
6	delTTAG	chr3:193,384,959–62, del TTAG	Val958 (964X)	Afr 9.96×10⁻⁵ ENF 4.62×10⁻⁵	[14]	Myopathy, neuropathy, ataxia

*This mutation was included in an online OPA1 mutation database (MitoDyn) without a publication reference, but acknowledged Mavrogiannis LA, Clayton-Smith J, Charlton RS (unpublished). Abbreviations: N, number with mutation; ExAC, Exome aggregate consortium; MAF, minor allele frequency; NP, Not Present; SA, South Asian; ENF, European Nonfinnish; Lat, Latino; Afr, African; Chr, chromosome; IVS, intervening sequence (intron); X, stop codon; Ala, alanine, Arg, arginine; Glu, Glutamate; Leu, Leucine; Ser, Serine; Thr, Threonine; Val, Valine.