Difference between revisions of "Sequence-based mutation analysis of ARSA"
(→Intro) |
(→Intro) |
||
Line 41: | Line 41: | ||
| [[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 ]] |
||
+ | |- |
||
+ | |colspan="5"| ''Description of Asp-Asn'' |
||
+ | Paste description of mutation here |
||
|- |
|- |
||
|Pro - Ala |
|Pro - Ala |
||
Line 47: | Line 50: | ||
| [[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 ]] |
||
+ | |- |
||
+ | |colspan="5"| ''Description of Pro-Ala'' |
||
+ | Paste description of mutation here |
||
|- |
|- |
||
| Gln-His |
| Gln-His |
||
Line 53: | Line 59: | ||
| [[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 ]] |
||
+ | |- |
||
+ | |colspan="5"| ''Description of Gln-His'' |
||
+ | Paste description of mutation here |
||
|- |
|- |
||
| Trp-Cys |
| Trp-Cys |
||
Line 59: | Line 68: | ||
| [[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 ]] |
||
+ | |- |
||
+ | |colspan="5"| ''Description of Trp-Cys'' |
||
+ | Paste description of mutation here |
||
|- |
|- |
||
| Thr-Met |
| Thr-Met |
||
Line 65: | Line 77: | ||
| [[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 ]] |
||
+ | |- |
||
+ | |colspan="5"| ''Description of Thr-Met'' |
||
+ | Paste description of mutation here |
||
|- |
|- |
||
| Phe -Val |
| Phe -Val |
||
Line 71: | Line 86: | ||
| [[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 ]] |
||
+ | |- |
||
+ | |colspan="5"| ''Description of Phe-Val'' |
||
+ | Paste description of mutation here |
||
|- |
|- |
||
| Thr-Ile |
| Thr-Ile |
||
Line 77: | Line 95: | ||
| [[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 ]] |
||
+ | |- |
||
+ | |colspan="5"| ''Description of Thr-Ile'' |
||
+ | Paste description of mutation here |
||
|- |
|- |
||
| Asn-Ser |
| Asn-Ser |
||
Line 83: | Line 104: | ||
| [[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 ]] |
||
+ | |- |
||
+ | |colspan="5"| ''Description of Asn-Ser'' |
||
+ | Paste description of mutation here |
||
|- |
|- |
||
| Cys-Gly |
| Cys-Gly |
||
Line 90: | Line 114: | ||
| [[File:489_arsa_both.png | 200px | center | thumb ]] |
| [[File:489_arsa_both.png | 200px | center | thumb ]] |
||
|- |
|- |
||
+ | |colspan="5"| ''Description of Cys-Gly'' |
||
− | | Arg - His |
||
+ | Paste description of mutation here |
||
+ | |- |
||
+ | | 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 ]] |
||
+ | |- |
||
+ | |colspan="5"| ''Description of Arg-His'' |
||
+ | Paste description of mutation here |
||
|- |
|- |
||
|} |
|} |
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 | |||
Description of Asp-Asn
Paste description of mutation here | ||||
Pro - Ala | 136 | |||
Description of Pro-Ala
Paste description of mutation here | ||||
Gln-His | 153 | |||
Description of Gln-His
Paste description of mutation here | ||||
Trp-Cys | 193 | |||
Description of Trp-Cys
Paste description of mutation here | ||||
Thr-Met | 274 | |||
Description of Thr-Met
Paste description of mutation here | ||||
Phe -Val | 356 | |||
Description of Phe-Val
Paste description of mutation here | ||||
Thr-Ile | 409 | |||
Description of Thr-Ile
Paste description of mutation here | ||||
Asn-Ser | 440 | |||
Description of Asn-Ser
Paste description of mutation here | ||||
Cys-Gly | 489 | |||
Description of Cys-Gly
Paste description of mutation here | ||||
Arg-His | 496 | |||
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.
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