From: Hypophosphatasia
Class | Cell localization | Degradation, other features | 3D model localization | Mutation and reference | AP activity (% wild type) |
---|---|---|---|---|---|
1 | Intracellular accumulation; fails to move beyond the cis-Golgi | Degradation in the proteasome | Functional domains (homodimer interface, calcium binding site, active site) | R54C (c.211C>T), [29] | 0 |
 |  |  |  | N153D (c.508A>G) [32] | 0 |
 |  |  |  | I201T (c.653T>C) [40] | 0 |
 |  |  |  | E218G (c.704A>G) [19]; [26] | 0 |
 |  |  |  | D277A (c.881A>C) [29] | 0 |
 |  |  |  | D289V (c.917A>T) [33] | 0 |
 |  |  |  | G317D (c.1001G>A) [25] | 0 |
2 | Intracellular accumulation; fails to move beyond the cis-Golgi | Degradation in the proteasome | Not localized in a particular domain | A162T (c.535G>A) [26]; [29] | 18 |
 |  |  |  | G232V (c.746G>T) [40] | 34 |
3 | Cell membrane and cytoplasme | Â | Not localized in a particular domain | F310L c.979T>C [28] | 72 |
 |  |  |  | E174K (c.571G>A) [40] | 88 |
 |  |  |  | I473F (c.1468A>T) [40] | 37 |
 |  |  | Active site vicinity | G438S (c.1363G>A) [40] | 71 |
4 | Cell membrane | Â | Not localized in a particular domain | A115V (c.395C>T) [34] | 17 |
 | Intracellular localization; absence on cell surface | Large-sized secretory protein lacking GPI; aggregation due to disulphide bonds beween new cystein residues |  | c.1559delT [35] | 28 |
 | Cell membrane | Disulphide bond between new cystein residues | Crown domain | R433C (c.1348C>T) [39] | 4 |