Table 1.
Disease mutations in hnRNP proteins
Gene product | Disease | Causative mutation |
hnRNPA1 | ALS/multisystem proteinopathy | D262 → V(3), D262 → N(3) |
hnRNPA2 | Multisystem proteinopathy | D290 → V(3) |
hnRNPDL | Limb-girdle muscular dystrophy | D378 → N(8), D378 → H(8) |