Table 3 Genetic features of AD SPG30 in 10 Russian families
From: KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families
Family, оrigin | KIF1A (NM_004321.6) mutation | Exon | Domain | Familial /sporadic | Origin | GnomAD frequency | LOVD ID | CADD score | Conservativity |
|---|---|---|---|---|---|---|---|---|---|
30–1 Russian | с.22G > A (Val18Met) | 2 | Motor | Familial | Maternal | N/D | N/D | 27 | Conservated |
30–2 Russian | с.37С > T (p.Arg13Cys) | 2 | Motor | Sporadic | De novo | N/D | #0000673886 | 32 | Conservated |
30–3, 30–4 Russian, Dargin | с.206C > T (p.Ser69Leu) | 4 | Motor | Sporadic | De novo | N/D | #0000515392 | 24.9 | Conservated |
Familial | Paternal | ||||||||
30–5 Tatar | с.220 T > C (p.Tyr74His) | 4 | Motor | Familial | Paternal | N/D | N/D | 27 | Conservated |
30–6 Russian | с.499C > T (p.Arg167Cys) | 5 | Motor | Familial | Paternal | N/D | #0000515382 | 32 | Conservated |
30–7 Tatar | c.607A > G (p.Arg203Gln) | 6 | Motor | Sporadic | De novo | N/D | #0000673887 | 26.8 | Conservated |
30–8 Russian | с.761G > A (p.Arg254Gln) | 7 | Motor | Familial | Maternal | N/D | #0000075855 | 27.5 | Conservated |
30–9 Russian- Serb | с.798 + 1G > T | 8 | Motor | Sporadic | De novo | N/D | #0000673888 | 34 | Conservated |
30–10 Russian | c.917A > G (p.Tyr306Cys) | 11 | Motor | Sporadic | De novo | N/D | #0000673889 | 26.3 | Conservated |