Table 2 Description of SPAST gene variants identified in individuals with HSP.
Variant# | Identified by | Location | Predicted effect at the protein level# | Present in (49 patients/ 100 controls) | Patients | Intrafamilial segregation | Inferred pathogeneity |
|---|---|---|---|---|---|---|---|
c.131C>T* | S | exon 1 | p.S44L | 2/0 | 2942, 2943 | - | NP |
c.484G>A | DHPLC/S | exon 2 | p.V162I | 3/0 | 2627, 2747, 2943 | - | NP |
c.685A>G | DHPLC/S | exon 5 | p.S229G | 1/0 | 2930 | - | NP |
c.1174-1G>C | S | intron 8 | missplicing (deletion exon 9?) | 3/0 | 2109, 2930, 2931 | Yes | P |
c.1185delA | DHPLC/S | exon 9 | p.V385VfsX11 | 1/0 | 2752 | - | P |
c.1276 C>T | S | exon 10 | p.L426F | 3/0 | 2388, 2747, 2754 | Yes | P |
c.1245+202delG* | S | intron 10 | none | 3/4 | 2321, 2386, 2750 | - | NP |
c.1245+215G>C | S | intron 10 | none | 1/2 | 2960 | - | NP |
c.1352_1356del GAGAA | DHPLC/MLPA/S | exon 11 | p.R451RfsX5 | 1/0 | 2753 | - | P |
c.1378C>A | DHPLC/S | exon 11 | p.R460S | 2/0 | 2480, 2482 | Yes | P |
c.1518_1519insTC | MLPA/S | exon 13 | p.S507SfsX23 | 1/0 | 2478 | - | P |
c.1841_1842insA | DHPLC/S | exon17 | p.T614NfsX no Stop codon | 1/0 | 2389 | - | P |