Table 1.
A list of characterized pathogenic RTK mutations, and the underlying physical-chemical cause for the pathologies. All RTKs are human, unless stated otherwise.
| RTK | Mutations | Location | Phenotype | Cause for pathology |
|---|---|---|---|---|
| FGFR1 | P252R | Extracellular domain | Pfeiffer syndrome | Increased ligand binding (145). |
| FGFR1 | Y372C | Extracellular domain | Osteoglophonic dysplasia | Increased dimerization (103). |
| FGFR2 | S252W, P253R | Extracellular domain | Apert syndrome | Increased ligand binding (146). |
| FGFR2 | D321A | Extracellular domain | Pfeiffer syndrome | Increased ligand binding (146). |
| FGFR2 | C278F, C342Y, | Extracellular domain | Crouzon syndrome and Pfeiffer Syndrome | Increased dimerization (22). |
| FGFR2 | W290G, S354C, Y340H C342Y | Extracellular domain | Crouzon syndrome | Increased dimerization (22;147). |
| FGFR2 | T341P | Extracellular domain | Pfeiffer syndrome | Increased dimerization (22). |
| FGFR3 | R248C, S249C | Extracellular domain | Thanatophoric dysplasia type I | Increased dimerization (148). |
| FGFR3 | P250R | Extracellular domain | Muenke syndrome | Increased ligand binding (145). |
| FGFR3 | G370C, S371C, Y373C | Transmembrane domain | Thanatophoric dysplasia type I | Increased dimerization(148;149). |
| FGFR3 | G375C | Transmembrane domain | Achondroplasia | Increased dimerization (149). |
| FGFR3 | G380R | Transmembrane domain | Achondroplasia | Structural change (14). |
| FGFR3 | A391E | Transmembrane domain | Crouzon syndrome with acanthosis nigricans | Increased dimerization (15). |
| FGFR3 | K650E | Kinase domain | Thanatophoric dysplasia type 2 | Structural change in the kinase domain (150). |
| FGFR4 | Y367C | Extracellular domain | Breast cancer | Increased dimerization (151). |
| EGFR | EGFRvIII. 6-273 deletion | Extracellular domain | Glioblastoma | Structural change (152). |
| EGFR | T263P, A289V, P596L, G598V | Extracellular domain | Glioblastoma | Increased dimerization (153). |
| EGFR | G719S | Kinase domain | Non-small-cell lung carcinoma | Structural change in the kinase domain (154). |
| EGFR | L858R | Kinase domain | Non-small-cell lung carcinoma | Structural change in the kinase domain and increased ligand binding (9;155). |
| EGFR | 752–759 deletion and L861Q | Kinase domain | Non-small-cell lung carcinoma | Structural change in the kinase domain (155). |
| EGFR | 959–1030 deletion | C-terminal tail | Glioblastoma | Structural change in the kinase domain (156). |
| ErbB2 (Rat) | V664E | Transmembrane domain | Oncogenic in rat | Increased dimerization (16). |
| KIT | 417–419 deletion and T417I | Extracellular domain | Acute myeloid leukemia (AML) | Increased dimerization (157). |
| KIT | V559D | Juxtamembrane domain | Gastrointestinal stromal tumor | Structural change in the juxtamembrane domain (158) (159). |
| KIT | V560G | Juxtamembrane domain | Mastocytosis | Increased dimerization (158;160). |
| KIT (Murine) | KΔ27.547–555 deletion and D560K | Juxtamembrane domain | Mastocytoma | Increased dimerization (161). |
| KIT | D816V | Kinase domain | Mastocytosis | Structural change and increased dimerization (under debate) (162–164). |
| PDGFRA | V561D | Juxtamembrane domain | Gastrointestinal stromal tumors | Increased dimerization (165). |
| PDGFRA | D842V | Kinase domain | Gastrointestinal stromal tumors | Increased dimerization (165). |