Table 2.
uORF-altering mutations linked to disease
| # | Gene | Disease | Mutation | uORF link |
|---|---|---|---|---|
| 1 | THPO | Thrombocythemia | splice site (3) | Known |
| 2 | CDKN2A | Melanoma | G-34T (4) | Known |
| 3 | HR | Marie Unna hereditary hypotrichosis | A-321G (5) | Known |
| 4 | SRY | Gonadal dysgenesis | G-75A (32) | Novel* |
| 5 | IRF6 | Van der Woude syndrome | A-48T (33) | Novel* |
| 6 | GCH1 | DOPA-responsive dystonia | C-22T (34) | Novel |
| 7 | HAMP | Juvenile hemochromatosis | G-25A (35) | Predicted |
| 8 | KCNJ11 | Hyperinsulinemic hypoglycemia, 2 | C-54T (36)† | Predicted |
| 9 | LDLR | Familial hypercholesterolemia | delC-22 (37)† | Predicted |
| 10 | PEX7 | Rhizomelic chondrodysplasia punctata | C-45T (38)† | Predicted |
| 11 | POMC | Proopiomelanocortin deficiency | C-11A (39) | Predicted |
| 12 | PRKAR1A | Carney complex type 1 | G-97A (40) | Predicted* |
| 13 | SPINK1 | Hereditary pancreatitis | C-53T (41) | Predicted* |
| 14 | HBB | Thalassaemia β | G-29A (42)† | Predicted* |
uORF-altering mutations detected in patients but not population controls. Mutation column includes 5′ UTR position relative to translation start and literature reference (in parentheses). The links between mutations and uORFs were previously known, previously predicted, or not previously known (novel).
*Mutations tested experimentally in this study.
†Compound heterozygous mutations.