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].