Table. 1 Recurrent variants identified in the cohort.
From: Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders
Recurrent variants | n | Broad phenotype (individuals) | Variant class | Location |
|---|---|---|---|---|
p.R853Q | 18 | DEE (16) ASD (2) | Missense | Helical repeat II |
p.A263V | 14 | DEE (8) BFNIS (5) ASD (1) | Missense | Helical repeat I |
p.R1882Q | 10 | DEE (10) | Missense | Cytoplasmic |
p.E999K | 8 | DEE (7) Other epilepsy (1) | Missense | Cytoplasmic |
p.L1342P | 5 | DEE (5) | Missense | Helical repeat III |
p.R1319Q | 5 | BFNIS (3) DEE (2) | Missense | Helical repeat III |
p.L1650P | 4 | Atypical (3) DEE (1) | Missense | Cytoplasmic |
p.M1545V | 4 | DEE (3) Other epilepsy (1) | Missense | Helical repeat IV |
p.R1629H | 4 | DEE (3) BFNIS (1) | Missense | Helical repeat IV |
p.V261M | 4 | DEE (2) BFNIS (2) | Missense | Helical repeat I |
p.E1211K | 3 | DEE (3) | Missense | Helical repeat III |
p.E1321K | 3 | BFNIS (2) ASD (1) | Missense | Cytoplasmic |
p.M136I | 3 | DEE (3) | Missense | Helical repeat I |
p.R102* | 3 | DEE (2) Atypical (1) | Nonsense | Cytoplasmic |
p.R1319L | 3 | DEE (2) Other epilepsy (1) | Missense | Helical repeat III |
p.R1435* | 3 | ASD (2) DEE (1) | Nonsense | Extracellular |
p.R36G | 3 | BFNIS (2) Other epilepsy (1) | Missense | Cytoplasmic |
p.R856Q | 3 | DEE (3) | Missense | Helical repeat II |
p.R937C | 3 | ASD (2) Atypical (1) | Missense | Pore-forming |
p.S1336Y | 3 | DEE (3) | Missense | Cytoplasmic |
p.S987I | 3 | DEE (1) BFNIS (1) Other epilepsy (1) | Missense | Cytoplasmic |
