Molecular Vision: Maeda-Katahira, Mol Vis 2019; 25:559-573. Table 1

Table 1. Results of in silico genetic analysis of 3 OPA1 variants*1.

Variant ID	HGVS.c	HGVS.p	Position (GRCh 38)	HGVD (%)*²	2kJPN (%)	GnomAD allele frequency (%)						Prediction			Conservation score		dbSNP ID
Variant ID	HGVS.c	HGVS.p	Position (GRCh 38)	HGVD (%)*²	2kJPN (%)	East Asian	South Asian	European (Non - finish)	Latino	African	Total	SIFT	Polyphen2 HDIV	Mutation taster	PhyloP	Phast Cons	dbSNP ID
V1	c.1334G>A	p.Arg445His	3:193643996	0	0	0	0	0	0	0	0	Deleterious	Probably damaging	Disease causing	6.014	1	rs80356529
V2	c.1618A>C	p.Thr540Pro	3:193647093	0	0	0	0	0	0	0	0	Deleterious	Probably damaging	Disease causing	4.904	1	ND*³
V3	c.892A>C	p.Ser298Arg	3:193637973	0	0	0	0	0	0	0	0	Deleterious	Probably damaging	Disease causing	4.884	1	ND

*1Reference: ENST00000392438, NM_015560.2, GRCh38.p12. *2In silico bioinformatic analyses were performed with three allele frequency databases, three software prediction programs, and conservation scores; HGVD (accessed on May 10, 2019), 2kJPN (https://ijgvd.megabank.tohoku.ac.jp/download_2kjpn/; accessed on May 10, 2019), gnomAD Browser (accessed on May 10, 2019), PolyPhen2 (accessed on May 10, 2019), SIFT (accessed on May 10, 2019), and mutation taster (accessed on May 10, 2019), primate PhyloP scores and phastCons scores provided by UCSC (accessed on May 10, 2019). *3ND, not detected.