| Gene | HNRNPA1 |
| Gene name | heterogeneous nuclear ribonucleoprotein A1 |
| Number variants ALSoD | 7 |
| Number people with mutation ALSoD | No patient data available in ALSoD |
| Number of papers ALSoD | 3 |
| Chromosomal location | 12q13:13 |
| Protein | Heterogeneous nuclear ribonucleoprotein A1 |
| Discovery method | Linkage analysis |
| Hg19 start-end | 54673977-54680872 |
| Hg38 start-end | 54280193-54287088 |
| Category | Definitive ALS gene |
| Evidence summary | To be drafted |
| Review references | To be added |
| Mnemonic | Chromosome | Position hg19 | HGVS | Pubmed links | # publications | # patients |
|---|---|---|---|---|---|---|
| D314N | 12 | 54677628 | NM_031157.2:c.940G>A | 23455423 | 1 | 0 |
| D314N | 12 | 54677628 | NM_031157.4:c.940G>A | 23455423 | 1 | 0 |
| G283R | 7 | 26233225 | NM_031243.3:c.847G>A | 27694260 | 1 | 0 |
| G359S | 12 | 54678053 | NM_031157.4:c.1075G>A | 29650794 | 1 | 0 |
| N319S | 12 | 54677644 | NM_031157.2:c.956A>G | 23455423 | 1 | 0 |
| P340S | 12 | 54677706 | NM_031157.4:c.1018C>T | 27694260 | 1 | 0 |
| Q277K | 12 | 54676940 | NM_031157.2:c.829C>A | 27694260 | 1 | 0 |
| Pubmed ID | First author | Year | Title | |
|---|---|---|---|---|
| 23455423 | Kim | 2013 | Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS | |
| 27694260 | Liu | 2016 | Whole-exome sequencing identies a missense mutation in hnRNPA1 in a family with flail arm ALS | |
| 29650794 | Muller | 2018 | Comprehensive analysis of the mutation spectrum in 301 German ALS families |