Difference between revisions of "Sequence-based mutation analysis Gaucher Disease"
From Bioinformatikpedia
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</figtable> |
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Revision as of 14:34, 14 June 2012
The aim of this task was to carry out a thorough analysis of ten mutations and to classify them as disease-causing and non-disease causing. The mutations have been selected by another group from our [Researching SNPs Gaucher Disease|set of collected mutations] such that their impact had been unknown for us prior to this task. Technical details are reported in our protocol.
Mutations
<figtable id="tab:mutations">
| Nr | Position | From | To |
|---|---|---|---|
| 1 | 99 | H | R |
| 2 | 211 | V | I |
| 3 | 150 | E | K |
| 4 | 236 | L | P |
| 5 | 248 | W | R |
| 6 | 534 | R | C |
| 7 | 351 | W | C |
| 8 | 423 | A | D |
| 9 | 482 | D | N |
| 10 | 83 | R | S |
</figtable>
