Clinical Study
High-Resolution En Face Images of Microcystic Macular Edema in Patients with Autosomal Dominant Optic Atrophy
Table 2
Summary of the mutations of OPA1 gene.
| | Patient ID | Nucleotide change | Consequencea | Domain | Location | Reference |
| | 1-II-1 | c.1771-1G>A | p.N591GfsX18
(splicing defect) | Dynamin central region | Boundary of intron 18-
exon 19 | This study | | 2-II-1 | c.1899delT | p.I633MfsX12 | Dynamin central region | Exon 20 | This study | | 3-III-1 | c.1096C>T | p.R366X | GTPase domain | Exon 11 | Alexander et al. 2000 [10] | | 4-II-1 | c.1102delT | p.R368GfsX4 | GTPase domain | Exon 11 | This study | | 4-III-1 | Same as above | | 4-III-2 | Same as above |
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Reference sequence NM_015560.2.
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