Table 1.

Clinical and molecular description of patients with OPA1 mutations

Patients (Gender, Age)	Age of onsetOpticAtrophy	Ataxia	Neuropathy	Digestive symptoms	Others	Mutations in OPA1	Exon/Domain	PROVEAN	Polyphen2	Sift	MutationTaster	FATHMM	Ref.
Patient 1 (M, 42 years)	3 years	+	−	−	−	p.Ser545Arg	Exon 17 (Dynamin) c.1635 C>G	−4.585 Deleterious	0.991 probably damaging	0 DAMAGING	110 disease causing	−3.59 DAMAGING	7
Patient 2 (M, 49 years)	5 years	+	−	−	−	p.Ser545Arg	Exon 17 (Dynamin) c.1635 C>G	−4.585 Deleterious	0.991 probably damaging	0 DAMAGING	110 disease causing	−3.59 DAMAGING	7
Patient 3 (F, 30 years)	6 years	−	−	−	Deafness	p.Arg445His	Exon 14 (GTPase) c.1334 G>A	−4.701 Deleterious	0.966 probably damaging	0 DAMAGING	29 disease causing	−4.21 DAMAGING	6
Patient 4 (M, 14 years)	18 months	+	+ peripheral neuropathy	+	Cerebellar Atrophy	p.Ile382Met	Exon 12 (GTPase) c.1146 A>G	−2.820 Deleterious	0.999 probably damaging	0 DAMAGING	10 disease causing	−4.44 DAMAGING	8
						p.Arg824*	Exon 24 (Dynamin) c.2470 C>T	Truncation	Truncation	Truncation	6 disease causing	Truncation
Patient 5 (F, 4 years)	14 months	+	+ peripheral neuropathy	+	−	p.Ile382Met	Exon 12 (GTPase) c.1146 A>G	−2.820 Deleterious	0.999 probably damaging	0 DAMAGING	10 disease causing	−4.44 DAMAGING	8
						p.Arg557*	Exon 17 (GTPase) c.1669 C>T	Truncation	Truncation	Truncation	6 disease causing	Truncation
Patient 6 (M, 15 years)	36 months	+	+	−	Vermian Atrophy	p.Ile382Met	Exon 12 (GTPase) c.1146 A>G	−2.820 Deleterious	0.999 probably damaging	0 DAMAGING	10 disease causing	−4.44 DAMAGING	8
						p.Glu487Lys	Exon 15 (GTPase) c.1459 G>A	−2.488 Neutral	0.411 benign	0.03 DAMAGING	56 disease causing	−3.65 DAMAGING
Patient 7 (M, 16 years)	12 months	+	+	−	Epilepsy	p.Ile382Met	Exon 12 (GTPase) c.1146 A>G	−2.820 Deleterious	0.999 probably damaging	0 DAMAGING	10 disease causing	−4.44 DAMAGING	−

M, male; F, female. * : Stop.