Table 2.
Missense mutations that replace frequently modified residues
| GENE | VAR | TYPE | LTP | HTP | DISEASE |
|---|---|---|---|---|---|
| PTPN11 | Y62D | ph | 0 | 2116 | Noonan syndrome 1, Familial |
| LDLR | Y82C | ph | 0 | 164 | Familial hypercholesterolemia |
| PKP2 | Y63C | ph | 0 | 112 | Ventricular dysplasia, arrhythmogenic |
| BTK | Y36C | ph | 0 | 111 | X-linked agammaglobulinemia |
| TUBB | Y22F | ph | 0 | 104 | Skin creases, circumferential |
| ACTC1 | Y16C | ph | 0 | 92 | Cardiomyopathy, hypertrophic |
| KRT10 | Y16D | ph | 0 | 79 | Epidermolytic hyperkeratosis |
| GNAS | K33N | ub | 0 | 47 | Pseudohypoparathyroidism |
| UPF3B | Y16D | ph | 0 | 38 | Mental retardation |
| HMGCL | K48N | ac | 0 | 45 | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
GENE, HGNC gene names; VAR, germline disease missense mutations from Humsavar 20 June 2018, (www.uniprot.org/docs/humsavar); LTP, number of low-throughput references curated into PSP; HTP, number of high-throughput references curated into PSP; TYPE, modification type: PH (phosphorylation), AC (acetylation), UB (ubiquitylation); and DISEASE, associated disease from Humsavar.