Difference between revisions of "Sequence-based mutation analysis Gaucher Disease"

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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 [[Gaucher_Task06_Protocol|protocol]].
  
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 [[Gaucher_Task06_Protocol|protocol]].
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== Mutations ==
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<figtable id="tab:mutations">
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{| style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 2px 0 2px 0; text-align:right" width="300px"
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|- style="background-color: lightgrey"
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! Nr !! Position !! From !! To
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|-
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| colspan=4 style="border-collapse: separate; border-style: solid; border-spacing: 0; border-width: 1px 0 0 0"|
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|-
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| 1 || 99 || H || R
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|-
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| 2 || 211 || V || I
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|-
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| 3 || 150 || E || K
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|-
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| 4 || 236 || L || P
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|-
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| 5 || 248 || W || R
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|-
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| 6 || 534 || R || C
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|-
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| 7 || 351 || W || C
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|-
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| 8 || 423 || A || D
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|-
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| 9 || 482 || D || N
  +
|-
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| 10 || 20 || I || V
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|}
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</figtable>

Revision as of 14:31, 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 20 I V

</figtable>

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