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

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<caption>Physicochemical properiets of the wildtype and mutatant amino acid which are used to classify the mutation as severe or non-severe.</caption>
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<caption>Physicochemical properiets of the wildtype and mutatant amino acid which were used to classify the mutation as severe or non-severe.</caption>
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</figtable>
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== Structural analysis ==
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<figtable id="tab:structure">
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! Nr !! Mutation !! Accessibility !! 2nd structure !! Domain region !! Mutation
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| 1 || H99R || exposed || C || no || [[File:structure_nr1.png|x30px]]
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| 2 || V211I || exposed || C || no || [[File:structure_nr2.png|x30px]]
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<caption>Location of mutations in 2nt0_A. Blue: wildtype; Red: mutant.</caption>
 
</figtable>
  
</figtable>

Revision as of 16:36, 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

Randomly selected mutations from HGMD and dbSNP which were used for the sequence-based mutation analysis. </figtable>

Physicochemical properties

<figtable id="tab:props">

Nr Wildtype Mutant Severe change
AA Charge Polarity Size Aromatic AA Charge Polarity Size Aromatic
1 H negative polar large no R negative polar large no no
2 V neutral unpolar medium no I neutral unpolar medium no no
3 E positive polar large no K negative polar large no yes
4 L neutral unpolar medium no P neutral unpolar medium no no
5 W neutral unpolar large yes R negative polar large no yes
6 R negative polar large no C neutral polar small no yes
7 W neutral unpolar large yes C neutral polar small no yes
8 A neutral unpolar small no D positive polar medium no yes
9 D positive polar medium no N neutral polar medium no no
10 R negative polar medium no S neutral polar small no no

Physicochemical properiets of the wildtype and mutatant amino acid which were used to classify the mutation as severe or non-severe. </figtable>

Structural analysis

<figtable id="tab:structure">

Nr Mutation Accessibility 2nd structure Domain region Mutation
1 H99R exposed C no Structure nr1.png
2 V211I exposed C no Structure nr2.png

Location of mutations in 2nt0_A. Blue: wildtype; Red: mutant. </figtable>

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