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.