Difference between revisions of "Structure-based mutation analysis Gaucher Disease"
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| [http://www.rcsb.org/pdb/explore/explore.do?structureId=2nt0 2nt0] || 1.80 || 0.18 || 96% (40-536) || 4.5 |
| [http://www.rcsb.org/pdb/explore/explore.do?structureId=2nt0 2nt0] || 1.80 || 0.18 || 96% (40-536) || 4.5 |
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| [http://www.rcsb.org/pdb/explore/explore.do?structureId=1ogs 1ogs] || 2.00 || 0.18 || 96% (40-536) || 4.6 |
| [http://www.rcsb.org/pdb/explore/explore.do?structureId=1ogs 1ogs] || 2.00 || 0.18 || 96% (40-536) || 4.6 |
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| − | <caption>The 5 crystral structures of glycosylceramidase with the highest resolution. The physical lysosomal pH value is 4.5.</caption> |
+ | <caption>The 5 crystral structures of glycosylceramidase with the highest resolution. The physical lysosomal pH value is 4.5. 2nt0 was selected for the analysis.</caption> |
</figtable> |
</figtable> |
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Revision as of 10:01, 21 June 2012
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 physical 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>
