Structure-based mutation analysis Gaucher Disease
From Bioinformatikpedia
Cystral structure
<figtable id="tab:mutations">
| PDB | Res [Å] | R value | Coverage | pH |
|---|---|---|---|---|
| 2nt0 | 1.80 | 0.18 | 96% (40-536) | 4.5 |
| 3gxi | 1.84 | 0.19 | 96% (40-536) | 5.5 |
| 2v3f | 1.95 | 0.15 | 96% (40-536) | 6.5 |
| 2v3d | 1.96 | 0.16 | 96% (40-536) | 6.5 |
| 1ogs | 2.00 | 0.18 | 96% (40-536) | 4.6 |
The 5 crystral structures of glycosylceramidase with the highest resolution. The physiological lysosomal pH value is 4.5. 2nt0 was selected for the analysis. </figtable>
Mutations
<figtable id="tab:mutations">
| Nr | Pos P04062 |
Pos 2nt0_A |
From | To | Disease causing |
|---|---|---|---|---|---|
| 1 | 99 | 60 | H | R | No |
| 2 | 211 | 172 | V | I | No |
| 3 | 150 | 111 | E | K | Yes |
| 4 | 236 | 197 | L | P | Yes |
| 5 | 248 | 209 | W | R | Yes |
| 6 | 509 | 470 | L | P | No |
| 7 | 351 | 312 | W | C | Yes |
| 8 | 423 | 384 | A | D | Yes |
| 9 | 482 | 443 | D | N | No |
| 10 | 83 | 44 | R | S | No |
Mutations used for the structure-based mutation analysis. </figtable>
