Table 2 Variants of the SORD gene previously reported in the literature
From: A novel mutation in SORD gene associated with distal hereditary motor neuropathies
Variant 1 | Variant 2 | No. of cases | References |
|---|---|---|---|
c.28 C > T; p.Leu10Phe | c.757delG; p.Ala253GlnfsTer27 | 1 | Cortese et al., 2020 |
c.218 C > T; p.Ser73Leu | c.757delG; p.Ala253GlnfsTer27 | 1 | Laššuthová et al., 2021 |
c.298 C > T; p.Arg100Te | c.757delG; p.Ala253GlnfsTer27 | 1 | Cortese et al., 2020 |
c.316_425 + 165del; p.Cys106Ter | c.757delG; p.Ala253GlnfsTer27 | 1 | Cortese et al., 2020 |
c.329G > C; p.Arg110Pro | c.757delG; p.Ala253GlnfsTer27 | 1 | Cortese et al., 2020 |
c.404 A > G; p.His134Arg | c.908 + 1 G > C | 1 | Cortese et al., 2020 |
c.458 C > A; p.Ala153Asp | c.757delG; p.Ala253GlnfsTer27 | 12 | Cortese et al., 2020; Frasquet et al., 2021; Laššuthová et al., 2021 |
c.503G > A; p.Gly168Asp | c.757delG; p.Ala253GlnfsTer27 | 1 | Laššuthová et al., 2021 |
c.553G > A; p.Gly185Arg | c.757delG; p.Ala253GlnfsTer27 | 1 | Laššuthová et al., 2021 |
c.625 C > T; p.Arg209Ter | c.757delG; p.Ala253GlnfsTer27 | 2 | Grosz et al., 2022; Yuan et al., 2021 |
c.731 C > T; p.P244L | c.757delG; p.Ala253GlnfsTer27 | 1 | Liu et al., 2021 |
c.757delG; p.Ala253GlnfsTer27 | c.757delG; p.Ala253GlnfsTer27 | 73 | Cortese et al., 2020; Frasquet et al., 2021; Dong et al., 2021; Wu et al., 2022; Yuan et al., 2021; Record et al., 2022; Laššuthová et al., 2021; Liu et al., 2021; Xie et al., 2020; Alluqmani et al., 2022; Bernard et al., 2022 |
c.776 C > T; p.A259V | c.757delG; p.Ala253GlnfsTer27 | 1 | Liu et al., 2021 |
c.786 + 1 G > A | c.757delG; p.Ala253GlnfsTer27 | 1 | Chen et al., 2022 |
c.851T > C; p.L284P | c.757delG; p.Ala253GlnfsTer27 | 1 | Liu et al., 2021 |
c.895 C > T; p.Arg299Ter | c.757delG; p.Ala253GlnfsTer27 | 1 | Cortese et al., 2020 |
c.964G > A; p.Val322Ilep | c.757delG; p.Ala253GlnfsTer27 | 1 | Cortese et al., 2020 |