Table 1. Variants identified in Tunisian patients with LS.
| Family and Patients | G | Age | Gene | ORF variant | Position | Protein change | PolyPhen | Sift | Mutation Taster | LRT | Mutation Assessor | MetaRNN | rs number |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family 1 | |||||||||||||
| Patient 1 | F | 6 | SLC19A3 |
NM_025243.4: c.1412delA |
Chr2: 228552192 | p.Gln471ArgfsTer42 | – | – | – | – | – | – | – |
| Patient 2 | F | 5 | SLC19A3 |
NM_025243.4: c.1412delA |
Chr2: 228552192 | p.Gln471ArgfsTer42 | – | – | – | – | – | – | – |
| Family 2 | |||||||||||||
| Patient 1 | M | 5 | SLC19A3 |
NM_025243: c.1264A>G |
Chr2: 228552932 | p.Thr422Ala | Damaging | Damaging | Disease causing | Deleterious | High | Damaging | rs121917884 |
| Family 3 | |||||||||||||
| Patient 1 | M | 4 | SLC25A19 |
NM_001126122.1: c.454C>G |
Chr17: 73279509 | p.Pro152Ala | Possibly damaging | Damaging | Disease causing | Deleterious | Medium | Damaging | – |
| Family 4 | |||||||||||||
| Patient 1 | M | 3 | ETHE1 |
NM_014297: c.122G>A |
Chr19: 44030771 | p.Gly41Asp | Probably damaging | Damaging | Disease causing | Deleterious | Medium | Damaging | – |
| Family 5 | |||||||||||||
| Patient 1 | M | 3 | MT-ND3 | m. 10197G>A | mitochondria | p.Ala47Thr | – | – | – | – | – | – | – |
G: gender; M: male; F: female.