Difference between revisions of "Sequence-based mutation analysis of ARSA"

From Bioinformatikpedia
(Intro)
(Intro)
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| [[File:29_arsa_asn.png | 200px | center | thumb ]]
 
| [[File:29_arsa_asn.png | 200px | center | thumb ]]
 
| [[File:29_arsa_both.png | 200px | center | thumb ]]
 
| [[File:29_arsa_both.png | 200px | center | thumb ]]
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|colspan="5"| ''Description of Asp-Asn''
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Paste description of mutation here
 
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|Pro - Ala
 
|Pro - Ala
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| [[File:136_arsa_ALA.png | 200px | center | thumb ]]
 
| [[File:136_arsa_ALA.png | 200px | center | thumb ]]
 
| [[File:136_arsa_both.png | 200px | center | thumb ]]
 
| [[File:136_arsa_both.png | 200px | center | thumb ]]
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|colspan="5"| ''Description of Pro-Ala''
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Paste description of mutation here
 
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| Gln-His
 
| Gln-His
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| [[File:153_arsa_HIS.png | 200px | center | thumb ]]
 
| [[File:153_arsa_HIS.png | 200px | center | thumb ]]
 
| [[File:153_arsa_both.png | 200px | center | thumb ]]
 
| [[File:153_arsa_both.png | 200px | center | thumb ]]
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|colspan="5"| ''Description of Gln-His''
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Paste description of mutation here
 
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| Trp-Cys
 
| Trp-Cys
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| [[File:193_arsa_CYS.png | 200px | center | thumb ]]
 
| [[File:193_arsa_CYS.png | 200px | center | thumb ]]
 
| [[File:193_arsa_both.png | 200px | center | thumb ]]
 
| [[File:193_arsa_both.png | 200px | center | thumb ]]
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|colspan="5"| ''Description of Trp-Cys''
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Paste description of mutation here
 
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| Thr-Met
 
| Thr-Met
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| [[File:274_arsa_MET.png | 200px | center | thumb ]]
 
| [[File:274_arsa_MET.png | 200px | center | thumb ]]
 
| [[File:274_arsa_both.png | 200px | center | thumb ]]
 
| [[File:274_arsa_both.png | 200px | center | thumb ]]
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|colspan="5"| ''Description of Thr-Met''
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Paste description of mutation here
 
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| Phe -Val
 
| Phe -Val
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| [[File:356_arsa_VAL.png | 200px | center | thumb ]]
 
| [[File:356_arsa_VAL.png | 200px | center | thumb ]]
 
| [[File:356_arsa_both.png | 200px | center | thumb ]]
 
| [[File:356_arsa_both.png | 200px | center | thumb ]]
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|colspan="5"| ''Description of Phe-Val''
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Paste description of mutation here
 
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| Thr-Ile
 
| Thr-Ile
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| [[File:409_arsa_ILE.png | 200px | center | thumb ]]
 
| [[File:409_arsa_ILE.png | 200px | center | thumb ]]
 
| [[File:409_arsa_both.png | 200px | center | thumb ]]
 
| [[File:409_arsa_both.png | 200px | center | thumb ]]
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|colspan="5"| ''Description of Thr-Ile''
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Paste description of mutation here
 
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| Asn-Ser
 
| Asn-Ser
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| [[File:440_arsa_SER.png | 200px | center | thumb ]]
 
| [[File:440_arsa_SER.png | 200px | center | thumb ]]
 
| [[File:440_arsa_both.png | 200px | center | thumb ]]
 
| [[File:440_arsa_both.png | 200px | center | thumb ]]
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|colspan="5"| ''Description of Asn-Ser''
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Paste description of mutation here
 
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| Cys-Gly
 
| Cys-Gly
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| [[File:489_arsa_both.png | 200px | center | thumb ]]
 
| [[File:489_arsa_both.png | 200px | center | thumb ]]
 
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|colspan="5"| ''Description of Cys-Gly''
| Arg - His
 
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Paste description of mutation here
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| Arg-His
 
| 496
 
| 496
 
| [[File:496_arsa_ARG.png | 200px | center | thumb ]]
 
| [[File:496_arsa_ARG.png | 200px | center | thumb ]]
 
| [[File:496_arsa_HIS.png | 200px | center | thumb ]]
 
| [[File:496_arsa_HIS.png | 200px | center | thumb ]]
 
| [[File:496_arsa_both.png | 200px | center | thumb ]]
 
| [[File:496_arsa_both.png | 200px | center | thumb ]]
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|colspan="5"| ''Description of Arg-His''
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Paste description of mutation here
 
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Revision as of 19:09, 23 June 2011

Intro

SNP type mutation position
missense Asp-Asn 29
missense Pro - Ala 136
missense Gln-His 153
missense Trp-Cys 193
missense Thr-Met 274
missense Phe -Val 356
missense Thr-Ile 409
missense Asn-Ser 440
missense Cys-Gly 489
missense Arg - His 496


mutation position reference mutation both
Asp-Asn 29
29 arsa asp.png
29 arsa asn.png
29 arsa both.png
Description of Asp-Asn

Paste description of mutation here

Pro - Ala 136
136 arsa PRO.png
136 arsa ALA.png
136 arsa both.png
Description of Pro-Ala

Paste description of mutation here

Gln-His 153
153 arsa GLN.png
153 arsa HIS.png
153 arsa both.png
Description of Gln-His

Paste description of mutation here

Trp-Cys 193
193 arsa TRP.png
193 arsa CYS.png
193 arsa both.png
Description of Trp-Cys

Paste description of mutation here

Thr-Met 274
274 arsa THR.png
274 arsa MET.png
274 arsa both.png
Description of Thr-Met

Paste description of mutation here

Phe -Val 356
356 arsa PHE.png
356 arsa VAL.png
356 arsa both.png
Description of Phe-Val

Paste description of mutation here

Thr-Ile 409
409 arsa THR.png
409 arsa ILE.png
409 arsa both.png
Description of Thr-Ile

Paste description of mutation here

Asn-Ser 440
440 arsa ASN.png
440 arsa SER.png
440 arsa both.png
Description of Asn-Ser

Paste description of mutation here

Cys-Gly 489
489 arsa CYS.png
489 arsa GLY.png
489 arsa both.png
Description of Cys-Gly

Paste description of mutation here

Arg-His 496
496 arsa ARG.png
496 arsa HIS.png
496 arsa both.png
Description of Arg-His

Paste description of mutation here

SNAP

We ran snap using the following command:


snapfun -i ARSA.fasta -m mutants.txt -o snap.out


output:


nsSNP	Prediction	Reliability Index	Expected Accuracy
-----	------------	-------------------	-------------------
D29N	Non-neutral		7			96%
Q153H	 Neutral 		0			53%
T274M	Non-neutral		6			93%
T409I	Non-neutral		1			63%
C489G	Non-neutral		5			87%
W193C	Non-neutral		3			78%
F356V	 Neutral 		1			60%
N440S	Non-neutral		2			70%
R496H	 Neutral 		1			60%
P136A	Non-neutral		4			82%

ref\mutation A R N D C Q E G H I L K M F P S T W Y V
D29 Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral
Q153 Non-neutral Non-neutral Neutral Non-neutral Non-neutral Non-neutral Non-neutral Neutral Non-neutral Non-neutral Non-neutral Neutral Non-neutral Neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral
T274 Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral
T409 Neutral Non-neutral Neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral
C489 Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral
W193 Non-neutral Non-neutral Neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral
F356 Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Neutral Non-neutral Non-neutral Neutral Neutral Neutral Non-neutral Neutral Non-neutral Non-neutral Non-neutral Non-neutral Neutral Neutral
N440 Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral
R496 Non-neutral Non-neutral Non-neutral Non-neutral Neutral Non-neutral Non-neutral Neutral Non-neutral Non-neutral Neutral Non-neutral Neutral Non-neutral Non-neutral Non-neutral Non-neutral Neutral Non-neutral
P136 Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral Non-neutral

Multiple sequence alignments

First, we downloaded the HSSP file for ARSA to get all proteins, which are homolog to it. Then we extracted from it all 75 mammalian proteins and downloaded their sequences. Uniprot identifiers of these are listed below:


Next, we calculated multiple sequence alignments of these proteins (including ARSA) with Muscle. The Jalview images of the alignments are shown below.

Multiple sequence alignments of all 75 homologuous sequences using muscle
pos conservation - reference conservation - mutant
29 0.86 0
153 0.14 0
274 0.87 0
409 0.35 0.16
489 0.80 0.05
193 0.13 0
356 0.15 0
440 0.15 0
496 0.14 0.01
136 0.93 0

PSI-BLAST


blastpgp -i ARSA.fasta -d /data/blast/nr/nr -e 10E-6 -j 5 -Q psiblast.mat -o psiblast_eval10E_6.it.5.new.txt


Last position-specific scoring matrix computed, weighted observed percentages rounded down, information per position, and relative weight of gapless real matches to pseudocounts
          A  R  N  D  C  Q  E  G  H  I  L  K  M  F  P  S  T  W  Y  V   A   R   N   D   C   Q   E   G   H   I   L   K   M   F   P   S   T   W   Y   V
  29 D   -5 -5 -2  8 -7 -3 -1 -4 -4 -6 -7 -4 -6 -7 -5 -3 -4 -7 -6 -6    0   0   0 100   0   0   0   0   0   0   0   0   0   0   0   0   0   0   0   0  2.49 1.56
 153 Q    3  2 -1  4 -4 -1 -1 -2  0 -2 -3 -3  4 -2 -3 -1 -2 -3 -2 -2   26  10   3  23   0   3   3   3   2   2   1   1  13   2   1   3   2   0   1   2  0.53 1.48
 274 T   -3 -4 -3 -4 -2 -4 -4 -5 -5 -4 -4 -4 -3 -5 -4  1  8 -6 -5 -3    0   0   0   0   0   0   0   0   0   0   0   0   0   0   0   7  92   0   0   0  1.94 1.62
 409 T   -1  0  0 -1 -2 -1 -1  0 -1 -1 -1  0 -1 -1  3  0  1  6  0 -1    5   5   5   4   1   3   4   8   1   3   6   5   1   2  13   6   8  11   3   4  0.26 0.95
 489 C    2 -1  1 -4  8 -4 -4 -2 -1 -1 -2 -3 -1 -4 -4  0  0  5 -1 -3   15   4   8   0  36   0   0   2   1   3   3   1   1   0   0   6   5   9   2   0  0.99 1.22
 440 N   -5 -3  6  5 -6 -2 -1 -4 -3 -6 -6 -3 -6 -6  2 -2 -3 -6 -6 -5    0   1  46  36   0   1   2   0   0   0   0   1   0   0  10   1   1   0   0   0  1.48 1.67
 356 F   -3 -1 -5 -5 -3  0 -1 -6  1  3  0 -1  0  2 -6 -3 -2 -3  5  3    1   4   0   0   1   5   4   0   3  18   8   5   2   8   0   1   2   0  20  20  0.59 1.62
 193 W   -2  4  2  3 -5  0  0 -2  0 -3 -4  1 -3 -1 -2 -1 -2  1  1 -3    3  25  11  16   0   4   5   3   2   2   1   7   0   2   2   4   2   2   5   2  0.46 1.45
 136 P   -3 -5 -5 -5 -6 -4 -4 -5 -5 -6 -6 -4 -6 -7  9 -4 -4 -7 -6 -5    1   0   0   0   0   0   0   0   0   0   0   0   0   0  98   0   0   0   0   0  3.03 1.61
 496 R   -3  1  0 -3 -4  1  1 -1  1 -3  1  1 -2  2  4  0 -3 -1 -1 -3    1   7   4   1   0   5  10   4   3   1  16   9   0   9  20   8   1   1   1   1  0.34 0.96