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 |