Table 2.
Likely damaging variants previously identified in DNAJC7 in multiple ALS cohorts.
| cDNA Change | Protein Change | Variant Type | ALS Cases (N) | GnomAD (Non-Neuro v2.1.1) MAF | In Silico Prediction (CADD) | Reference |
|---|---|---|---|---|---|---|
| c.22G > C | p.D8H | Missense | 1 (5095) | 0.0000198 | 25 | Farhan et al., 2019 [3] |
| c.97G > T | p.E33X | Stop gain | 1 (5095) | 0 | 39 | Farhan et al., 2019 [3] |
| c.358C > T | p.Q120X | Stop gain | 1 (5095) | 0 | 37 | Farhan et al., 2019 [3] |
| c.401_402delAA | p.Q134Rfs*6 | Truncating frameshift | 1 (325) | 0 | 31 | Jih et al., 2020 [26] |
| c.410A > G | p.K137R | Missense | 1 (326) | 0 | 23 | Sun et al., 2021 [29] |
| c.466C > T | p.R156X | Stop gain | 2 (5095) | 0 | 41 | Farhan et al., 2019 [3] |
| c.467G > A | p.R156Q | Missense | 1 (701) | 0.0000146 | 23 | He et al., 2021 [28] |
| c.488delT | p.F163fs*17 | Frameshift | 1 (5095) | 0 | NA | Farhan et al., 2019 [3] |
| c.631G > A | p.D211N | Missense | 1 (5095) | 0 | 26 | Farhan et al., 2019 [3] |
| c.646C > T | p.R216X | Stop gain | 2 (5095) | 0 | 40 | Farhan et al., 2019 [3] |
| c. 712A > G | p.R238G | Missense | 1 (578) | 0 | 24 | Wang et al., 2020 [27] |
| c.754-3T > C | NA | Essential splice site | 1 (701) | 0.0000244 | 15 | He et al., 2021 [28] |
| c.1011-2A > G | NA | Essential splice site | 1 (5095) | 0 | 26 | Farhan et al., 2019 [3] |
| c.1012T > A | p.Y338N | Missense | 1 (701) | 0 | 28 | He et al., 2021 [28] |
| c.1234C > T | p.R412W | Missense | 1 (5095) | 0.0000040 | 34 | Farhan et al., 2019 [3] |
| c.1273G > A | p.E425K | Missense | 2 (5095) | 0 | 35 | Farhan et al., 2019 [3] |
ALS, amyotrophic lateral sclerosis; CADD, combined annotation-dependent depletion; MAF, minor allele frequency; N, total cohort size; NA, not applicable.