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. 2023 Mar 14;14:1145426. doi: 10.3389/fgene.2023.1145426

TABLE 1.

Summary of bioinformatics data of VSX1 sequence variations identified by NGS in the study subjects.

Sequence variation Genotype Change site 1,000G gnomAD esp6500 Mutation taster Mutation assessor FATHMM PROVEAN MetaLR M-CAP FATHMM-XF_coding DANN
c.1025G>A (p.G342E) Het Exon 5 NI 0.00001 NI N L D N D D T 0.676
c.479G>T (p.G160V) Het Exon 2 0.00259 0.00097 NI D M D D D NI D 0.974
c.49C>G (p.L17V) Het Exon 1 0.00179 0.00076 NI N M D N D NI T 0.991
c.81C>T (p.R27R) Het Exon 1 0.00119 0.00094 NI NI NI NI NI NI NI NI NI
c.425-73C>T Het Intron 1 0.00019 0.00009 NI NI NI NI NI NI NI NI NI

Het, heterozygosis; NI, no information.

Mutation Taster: D: disease-causing, N: probably harmless; Mutation Assessor: H: high; M: medium; L: low; N: neutral; FATHMM: D: deleterious; T: tolerated; PROVEAN: D: deleterious; N: neutral.

MetaLR: D: deleterious, T: tolerated; CAP: D: damaging; T: tolerated; FATHMM-XF_coding: D: deleterious, T: tolerated.

DANN: higher values indicate that the mutation is more deleterious.