Table 1 of
Betts, Mol Vis 2024; 30:74-91. Table 1 of
Betts, Mol Vis 2024; 30:74-91.
Table 1. Tissue inhibitor of metalloproteinases 3 (TIMP-3) variants and their ability to dimerise.
| Mutation | Age of onset (years) | Original publication | Dimerization and/or multimerization |
|---|---|---|---|
| Leu10His & Gly12Arg | Early (2nd Decade) | [4] | Not clear. Dimeric species shown in cytoplasmic, membrane, nuclear extracts and ECM (for Gly12Arg) but no difference compared to wild-type TIMP-3 in HEK293FT cells [4]. |
| Cys24Arg | Early | [117] | Not known. |
| Ser38Cys | 40-50 | [118] | Yes, in ARPE-19 cells [79] but only monomeric in patient fibroblasts [119]. |
| Intron 4/Exon 5 Splice Site | 50-80 | [120] | Yes, in ARPE-19 cells [79]. |
| Ser149Cys | 30-50 | [121] | Not known. |
| Tyr151Cys | Early | [117] | Yes, in ARPE-19 cells [79]. |
| Glu162Lys | 30-50 | [80] | Yes, in ARPE-19 cells [80]. |
| Glu162STOP | 20-40 | [75] | Yes, in transfected insect cells [74] and ARPE-19 cells [70]. Dimer molecular weight is ~26 kDa, which is similar to wild-type TIMP-3. |
| Tyr174Cys | 30-40 | [122] | Not known. |
| Tyr177Cys | 50-60 | [122] | Yes, in ARPE-19 cells [79]. |
| Ser179Cys | 20-30 | [123] | No in ARPE-19 cells [69]. Yes, in ARPE-19 cells [70], BHK cells [77], COS-7 cells [75], porcine aortic. endothelial cells [81] mouse RPE, and human fibroblasts. Good in vivo evidence of dimer formation in mice [76]. |
| His181Arg | 50-70 | [97] | Yes, in ARPE-19 cells [79] and skin fibroblasts (not explicitly concluded but 39-50 kDa species observed) [97]. |
| Tyr182Cys | 50-60 | [124] | Yes, in ARPE-19 cells [79]. |
| Gly189Cys | 20-40 | [125] | Yes, in COS-7 cells [75]. |
| Gly190Cys | 30-40 | [17] | Yes, in BHK cells [77]. |
| Tyr191Cys | 30-40 | [126] | Yes, BHK cells [77], porcine aortic endothelial cells [81]. |
| Ser193Cys | 30-40 | [127] | Not known. |
| Tyr195Cys | 20-40 | [128] | Not known. |
| Trp198Cys | Early | [117] | Not known. |
| Ser204Cys | 30-60 | [3] | Yes, COS-7 cells [33], BHK cells [77], patient-derived fibroblasts [76], patient-derived fibroblasts [74], ARPE-19 cells [70], hiPSC-RPE cells [73], porcine aortic endothelial cells [81]. |