Table 3.
In silico pathogenicity characterization of the variants found only in the leprosy poles
| Genes | Mutation | Consequence | dbSNP | ClinVar |
|---|---|---|---|---|
| MT-RNR2 | m.1786C > T | Non-coding transcript exon variant | · | · |
| m.1752T > A | Non-coding transcript exon variant | · | · | |
| m.2008G > A | Non-coding transcript exon variant | · | · | |
| m.1986A > T | Non-coding transcript exon variant | · | · | |
| m.2001C > T | Non-coding transcript exon variant | · | · | |
| m.1981G > A | Non-coding transcript exon variant | · | · | |
| m.1992C > T | Non-coding transcript exon variant | · | · | |
| m.1773A > G | Non-coding transcript exon variant | · | · | |
| m.1779A > G | Non-coding transcript exon variant | · | · | |
| m.1980A > G | Non-coding transcript exon variant | rs1556422588 | · | |
| MT-ND1 | m.4158A > G | Synonymous variant | rs1603219327 | Benign |
| m.4248T > C | Missense variant | rs9326618 | Benign | |
| MT-ND5 | m.13650C > A | Synonymous variant | · | · |
| m.13674T > C | Synonymous variant | rs1603224299 | · | |
| m.12705C > T | Synonymous variant | rs193302956 | · | |
| m.13263A > G | Synonymous variant | rs28359175 | · | |
| MT-CO2 | m.8027G > A | Missense variant | rs1116904 | Benign |
| MT-CO3 | m.9540T > C | Synonymous variant | rs2248727 | · |
| m.9950T > C | Synonymous variant | rs3134801 | · | |
| m.9221A > G | Synonymous variant | rs367578507 | · | |
| m.9545A > G | Synonymous variant | rs878853022 | Benign | |
| MT-CYB | m.14783T > C | Synonymous variant | rs193302982 | Likely pathogenic |
| m.14905G > A | Synonymous variant | rs193302983 | Likely pathogenic | |
| DLOOP1 | m.16189T > C | Upstream variant | rs28693675 | · |
| m.16390G > A | Upstream variant | rs41378955 | · | |
| m.16362T > C | Upstream variant | rs62581341 | · |