Table 1.
Amyotrophic lateral sclerosis (ALS)-associated pathogenic variants in SOD1, C9orf72, FUS, and TARDBP (Genome Aggregation Database (gnomAD) v2.1.1).
| Nucleotide | Protein | dbSNP | Mutation Type |
|---|---|---|---|
| SOD1 | |||
| NM_000454.4:c.14C >T | NP_000445.1:p.Ala5Val | rs121912442 | Missense |
| NM_000454.4:c.20G >T | NP_000445.1:p.Cys7Phe | rs121912448 | Missense |
| NM_000454.4:c.13G >A | NP_000445.1:p.Ala5Thr | rs121912444 | Missense |
| NM_000454.4:c.37G >C | NP_000445.1:p.Gly13Arg | rs121912456 | Missense |
| NM_000454.4:c.49G >A | NP_000445.1:p.Gly17Ser | rs121912453 | Missense |
| NM_000454.4:c.64G >A | NP_000445.1:p.Glu22Lys | rs121912450 | Missense |
| NM_000454.4:c.115C >G | NP_000445.1:p.Leu39Val | rs121912432 | Missense |
| NM_000454.4:c.112G >C | NP_000445.1:p.Gly38Arg | rs121912431 | Missense |
| NM_000454.4:c.112G >A | NP_000445.1:p.Gly38Arg | rs121912431 | Missense |
| NM_000454.4:c.131A >G | NP_000445.1:p.His44Arg | rs121912435 | Missense |
| NM_000454.4:c.125G >A | NP_000445.1:p.Gly42Asp | rs121912434 | Missense |
| NM_000454.4:c.140A >G | NP_000445.1:p.His47Arg | rs121912443 | Missense |
| NM_000454.4:c.124G >A | NP_000445.1:p.Gly42Ser | rs121912433 | Missense |
| NM_000454.4:c.137T >G | NP_000445.1:p.Phe46Cys | rs121912457 | Missense |
| NM_000454.4:c.217G >A | NP_000445.1:p.Gly73Ser | rs121912455 | Missense |
| NM_000454.4:c.242A >G | NP_000445.1:p.His81Arg | rs121912458 | Missense |
| NM_000454.4:c.256G >C | NP_000445.1:p.Gly86Arg | rs121912436 | Missense |
| NM_000454.4:c.253T >G | NP_000445.1:p.Leu85Val | rs121912452 | Missense |
| NM_000454.4:c.281G >C | NP_000445.1:p.Gly94Ala | rs121912438 | Missense |
| NM_000454.4:c.280G >T | NP_000445.1:p.Gly94Cys | rs121912437 | Missense |
| NM_000454.4:c.280G >C | NP_000445.1:p.Gly94Arg | rs121912437 | Missense |
| NM_000454.4:c.289G >A | NP_000445.1:p.Asp97Asn | rs121912459 | Missense |
| NM_000454.4:c.302A >G | NP_000445.1:p.Glu101Gly | rs121912439 | Missense |
| NM_000454.4:c.319C >G | NP_000445.1:p.Leu107Val | rs121912440 | Missense |
| LRG_652t1:c.317C >T | LRG_652p1:p.Ser106Leu | Missense | |
| NM_000454.4:c.313A >T | NP_000445.1:p.Ile105Phe | rs121912445 | Missense |
| NM_000454.4:c.341T >C | NP_000445.1:p.Ile114Thr | rs121912441 | Missense |
| NM_000454.4:c.338T >C | NP_000445.1:p.Ile113Thr | rs74315452 | Missense |
| NM_000454.4:c.358-10T >G | Intron variant | ||
| NM_000454.4:c.358-11A >G | Intron variant | ||
| NM_000454.4:c.380T >A | NP_000445.1:p.Leu127Ter | rs121912454 | Stop gain |
| NM_000454.4:c.404G >A | NP_000445.1:p.Ser135Asn | rs121912451 | Missense |
| NM_000454.4:c.436G >A | NP_000445.1:p.Ala146Thr | rs121912447 | Missense |
| NM_000454.4:c.435G >C | NP_000445.1:p.Leu145Phe | rs1482760341 | Missense |
| NM_000454.4:c.434T >C | NP_000445.1:p.Leu145Ser | rs121912446 | Missense |
| NM_000454.4:c.455T >C | NP_000445.1:p.Ile152Thr | rs121912449 | Missense |
| C9orf72 | |||
| NM_001256054.2:c. − 45 + 163GGGGCC[>24] | rs143561967 | Intron variant | |
| FUS | |||
| NM_004960.3:c.616G >A | NP_004951.1:p.Gly206Ser | rs387906628 | Missense |
| NM_004960.3:c.646C >T | NP_004951.1:p.Arg216Cys | rs267606832 | Missense |
| NM_004960.3:c.1507_1508AG [3] | NP_004951.1:p.Gly504fs | Frameshift | |
| NM_004960.3:c.1483C >T | NP_004951.1:p.Arg495Ter | rs387906627 | Stop gain |
| NM_004960.3:c.1520G >A | NP_004951.1:p.Gly507Asp | rs267606831 | Missense |
| NM_004960.3:c.1570A >T | NP_004951.1:p.Arg524Trp | rs267606833 | Missense |
| NM_004960.3:c.1562G >A | NP_004951.1:p.Arg521His | rs121909671 | Missense |
| NM_004960.3:c.1561C >T | NP_004951.1:p.Arg521Cys | rs121909668 | Missense |
| NM_004960.3:c.1561C >G | NP_004951.1:p.Arg521Gly | rs121909668 | Missense |
| NM_004960.3:c.1553G >A | NP_004951.1:p.Arg518Lys | rs121909669 | Missense |
| NM_004960.3:c.1551C >G | NP_004951.1:p.His517Gln | rs121909667 | Missense |
| TARDBP | |||
| NM_007375.3:c.800A >G | NP_031401.1:p.Asn267Ser | rs80356718 | Missense |
| NM_007375.3:c.869G >C | NP_031401.1:p.Gly290Ala | rs121908395 | Missense |
| NM_007375.3:c.881G >T | NP_031401.1:p.Gly294Val | rs80356721 | Missense |
| NM_007375.3:c.881G >C | NP_031401.1:p.Gly294Ala | rs80356721 | Missense |
| NM_007375.3:c.883G >A | NP_031401.1:p.Gly295Ser | rs80356723 | Missense |
| NM_007375.3:c.892G >A | NP_031401.1:p.Gly298Ser | rs4884357 | Missense |
| NM_007375.3:c.943G >A | NP_031401.1:p.Ala315Thr | rs80356726 | Missense |
| NM_007375.3:c.991C >A | NP_031401.1:p.Gln331Lys | rs80356727 | Missense |
| NM_007375.3:c.1009A >G | NP_031401.1:p.Met337Val | rs80356730 | Missense |
| NM_007375.3:c.1028A >G | NP_031401.1:p.Gln343Arg | rs80356731 | Missense |
| NM_007375.3:c.1042G >T | NP_031401.1:p.Gly348Cys | rs80356733 | Missense |
| NM_007375.3:c.1055A >G | NP_031401.1:p.Asn352Ser | rs80356734 | Missense |
| NM_007375.3:c.1144G >A | NP_031401.1:p.Ala382Thr | rs367543041 | Missense |
| NM_007375.3:c.1153T >G | NP_031401.1:p.Trp385Gly | rs797044595 | Missense |