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

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| 5 || W248R || buried || H || yes || [[File:structure_nr5.png|x30px]]
  
| 5 || W248R || buried || H || yes || [[File:structure_nr5.png|x30px]]
 
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|-
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| 6 || R534C || exposed || C || no || [[File:structure_nr6.png|x30px]]
 +
| 6 || L509P || exposed || S || yes || [[File:structure_nr6.png|x30px]]
 
|-
  
|-
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| 7 || W351C || exposed || C || no || [[File:structure_nr7.png|x30px]]
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| 7 || W351C || exposed || S || yes || [[File:structure_nr7.png|x30px]]
 
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|-
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| 8 || A423D || exposed || C || no || [[File:structure_nr8.png|x30px]]
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| 8 || A423D || buried || C || yes || [[File:structure_nr8.png|x30px]]
 
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| 9 || D482N || exposed || C || no || [[File:structure_nr9.png|x30px]]
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| 9 || D482N || exposed || C || yes || [[File:structure_nr9.png|x30px]]
 
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| 10 || R83S || exposed || C || no || [[File:structure_nr10.png|x30px]]
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| 10 || R83S || exposed || C || yes || [[File:structure_nr10.png|x30px]]
 
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<caption>Location of mutations in 2nt0_A. Blue: wildtype; Red: mutant.</caption>
  
<caption>Location of mutations in 2nt0_A. Blue: wildtype; Red: mutant.</caption>

Revision as of 20:52, 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
6 509 L P
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 L neutral unpolar medium no P neutral unpolar medium no no
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
3 E150K exposed C no Structure nr3.png
4 L236P exposed C no Structure nr4.png
5 W248R buried H yes Structure nr5.png
6 L509P exposed S yes Structure nr6.png
7 W351C exposed S yes Structure nr7.png
8 A423D buried C yes Structure nr8.png
9 D482N exposed C yes Structure nr9.png
10 R83S exposed C yes Structure nr10.png

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

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