Table 3.
Seven SCN8A (NM_014191.3) mutations identified in our study
| Patient | Mutation | Chromosome 12: position | Domain | Mutation taster | PolyPhen-2 | Reported/Novel |
|---|---|---|---|---|---|---|
| Patient 1 | c. 694 T > C, p.Ser232Pro | 52,082,621 | DIS4 | Disease causing | Probably damaging | Novel |
| Patient 2 | c.2549G > A, p.Arg850Glu | 52,159,459 | DIIS4 | Disease causing | Probably damaging | Reported [14] |
| Patient 3 | c. 5614C > T, p.Arg1872Trp | 52,200,884 | C-terminal | Disease causing | Probably damaging | Reported [9, 14] |
| Pateint 4 | c. 423G > A, p.Gly1475Arg | 52,184,185 | DIIIS6-DIVS1 loop | Disease causing | Probably damaging | Reported [15] |
| Patient 5 | c.5630A > G, p.Asn1877Ser | 52,200,900 | C-terminal | Disease causing | Possibly damaging | Reported [15, 16] |
| Patient 6 | p.2671G > A, p.Val891Met | 52,159,581 | DIIS5 | Disease causing | Probably damaging | Novel |
| Pedigree | c.4793 T > C, p.Val1598Ala | 52,188,423 | DIVS3 | Disease causing | Probably damaging | Novel |
The positions of the mutations on chromosome 12 refer to the reference sequence that was retrieved from the NCBI database (build 37)