Table 3.
Motifs for posttranslational modifications mutated in disease
| Phosphorylation sites | |||||
| Liver Glycogenosis Type II | Phosphorylase kinase | RxxT→ RxxI | Phosphorylation site | LOF | (76) |
| Pleiotropic Malformation Syndrome | STRA6 | RxT→ CxT | PKA phosphorylation site | LOF | (48) |
| Maturity-onset Diabetes of the Young | HNF4α | RxG→RxS | PKA phosphorylation site | GOF | (73) |
| Schizophrenia | Synapsin III | SP→NP | MAPK phosphorylation site | LOF | (75) |
| Bukitt’s Lymphoma | cMyc | PTxxxS→ several | GSK3 phosphoylation site | LOF | (74) |
| Familial Advanced Sleep Phase Syndrome | Per2 | S662G within binding site | CKIε binding site | LOF | (72) |
| Familial Dysautonomia | IKAP | RIVT→PIVT | CamKII phosphorylation Site | LOF | (77) |
| Protease Cleavage sites | |||||
| Rickets | FGF-23 | RxxR→QxxR, RxxQ, RxxW | Protease cleavage site | LOF | (79) |
| Hypohidrotic Ectodermal Dysplasia | ectodysplasin-A | RxKR→ RxNR, CxKR, HxKR | Furin cleavage site | LOF | (81) |
| Intrauterine Growth Retardation | IGF1 Receptor | RKRR→RKQR | Protease cleavage site | LOF | (80) |
| Nonsyndromic Deafness | Low density-lipoprotein receptor A | RIVGG→LIVGG | Protease cleavage site | LOF | (86) |
| Haemophilia | Factor VIII | R372C, R1689C | Protein C, Thrombin cleavage site | LOF | (84, 85) |
| N-linked glycosylation | |||||
| (Many diseases) | ----- | ----- | N-glycosylation site | GOF | (89) |
| Retinitis Pigmentosa | Rhodopsin | NxS→NxN | N-glycosylation site | LOF | (90) |
| Metachromatic Leukodystrophy | Sphingolipid Activator protein B | NxT→HxT | N-glycosylation site | LOF | (92) |
| Creutzfeld-Jacob disease | Prion | NxT→NxA | N-glycosylation site | LOF | (91) |