Table 2. SARM1 coding variants in Answer ALS.
| SARM1domain | Coding variant* | rsID | Chr.17 position and change† | EuropeanMAF‡ | Carriers | |
|---|---|---|---|---|---|---|
| Cases(706) | Controls(92) | |||||
| G35E | rs1480321233 | 28372136 G > A | 0.000015 | 1 | ||
| ARM | R131G | rs1389320808 | 28372423 C > G | 0.000015 | 1 | |
| A210V | - | 28381361 C > T | 0 | 1 | ||
| Δ229–235 § | rs782325355 | 28381417_37 del | 0.000059 | 1 | ||
| R267W | rs11658194 | 28381531 C > T | 0.000015 | 1 | ||
| A301S § | rs782606059 | 28381633 G > T | 0.00012 | 1 | ||
| P332Q § | rs140811640 | 28381727 C > A | 0.012 | 16 | 3 | |
| SAM | Y501H § | rs144613221 | 28385146 T > C | 0.0029 | 5 | 5 |
| TIR | S684F | rs782256561 | 28396162 C > T | 0.000044 | 1 | |
| A719V § | rs146812537 | 28396267 C > T | 0.00050 | 1 | ||
All ARM domain and other N-terminal variants have been tested for function in this study.
*
numbering based on the canonical 724 amino acid human SARM1.
†
numbering according to genome build GRCh38.
‡
minor allele frequency for European (non-Finnish) population in gnomAD v3.1.1 as the best ethnicity match for this dataset.
§
Variants also present in the Project Mine DF1 dataset.