Table 2.
Overview of the different investigated prodomain variants and their polar contacts compared to wildtype DSC2.
| Variant | Polar contacts wildtype | Polar contacts variant | Altered bonding | Plasma-Membrane localization |
|---|---|---|---|---|
| p.D30N | p.K107* | / | − | ✓ |
| p.C32S | p.D30 | + | XX | |
| p.C32A | p.D30 | + | XX | |
| p.V52A | p.L54, p.G77 | X | ✓ | |
| p.V52I | p.L54, p.G77 | X | ✓ | |
| p.V52G | p.L54, p.G77 | X | XX | |
| p.V52l | p.L54, p.G77 | p.G77 | − | ✓ |
| p.C57S | p.L54 | p.L54 (2×), p.N53, p.K107 | +++ | ✓ |
| p.C57A | p.L54 | p.L54, p.K107 | + | ✓ |
| p.F71Y | p.S66, p.D68 | p.D68 | − | ✓ |
| p.F71A | p.S66, p.D68 | p.D68 | − | XX |
| p.F71S | p.S66, p.D68 | p.D68 | − | XX |
| p.G77V | p.L74, p.V52 | X | XX | |
| p.G77D | p.L74, p.V52 | X | XX | |
| p.G77S | p.L74, p.V52 | X | XX | |
| p.V79A | p.V49 (2×), p.G50 | X | ✓ | |
| p.V79I | p.V49 (2×), p.G50 | X | ✓ | |
| p.V79G | p.V49 (2×), p.G50 | p.V49 (1×), p.G50 | − | XX |
| p.V79l | p.V49 (2×), p.G50 | X | ✓ | |
| p.I96V | p.I109 (2×) | X | ✓ | |
| p.I96T | p.I109 (2×) | X | ✓ | |
| p.I96l | p.I109 (2×) | X | ✓ | |
| p.I96A | p.I109 (2×) | X | ✓ |
*An interaction to p.K107 could be found in the AlphaFold database but not modelled in PyMOL, +, one additional polar contact; - one deleted polar contact; X, no change; bold variants are ACM-related variants; XX, disturbed plasma membrane localization.