ASPA Sequence Based Mutation Analysis
From Bioinformatikpedia
Contents
Mutations
CM994594
Mutation: Tyr to Cys at position 231; we got it from dbSNP.
CM940124
Mutation: Ala to Glu at position 305; we got it from dbSNP.
RS104894553
Mutation: Arg to His at position 71; we got it from HGMD.
RS104894551
Mutation: Glu to Gly at position 24; we got it from HGMD.
RS104894548
Mutation: Cys to Arg at position 152; we got it from HGMD.
RS80099330
Mutation: Met to Thr at position 82; we got it from HGMD.
CM063847
Mutation: Thr to Ile at position 166; we got it from dbSNP.
CM990193
Mutation: Pro to His at position 183; we got it from dbSNP.
CM990195
Mutation: Met to Arg at position 195; we got it from dbSNP.
CM055097
Mutation: Lys to Glu at position 213; we got it from dbSNP.
PSSM
x
y
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
24 E -4 -3 -3 -1 -7 0 8 -5 -3 -6 -6 -2 -5 -6 -4 -3 -4 -6 -5 -6 0 0 0 0 0 1 99 0 0 0 0 0 0 0 0 0 0 0 0 0 2.24 1.67
71 R -4 8 -3 -2 -6 -2 -3 -5 -1 -5 -4 -1 1 -5 -5 -3 -4 -5 -4 -5 0 88 0 3 0 0 0 0 1 0 0 0 5 0 0 0 0 0 0 0 1.96 1.46
82 M 1 -2 1 2 -1 0 -1 1 0 -1 -2 -1 2 -3 1 -1 2 -3 -2 -1 10 2 6 10 1 4 4 12 3 4 4 3 5 1 6 5 14 0 2 5 0.15 1.53
152 C -2 -3 -1 1 3 -2 -2 -3 -2 3 -1 -4 2 -2 -2 -3 -2 -5 -1 5 2 2 3 8 6 2 2 2 1 16 3 1 4 1 3 2 2 0 2 39 0.64 2.02
166 T 2 -2 -1 -1 -2 -2 -1 -1 -1 -3 -2 -4 -2 3 -2 2 3 1 3 -1 15 2 2 3 1 1 5 5 1 1 4 1 1 12 2 15 16 2 10 3 0.34 2.09
183 P 0 -1 0 -1 1 0 -1 1 0 -4 -1 -1 0 -1 4 0 -1 4 0 -2 9 3 4 4 3 4 3 12 3 0 6 4 3 3 17 6 3 6 3 3 0.26 1.80
195 M 1 -1 -4 -1 2 -1 -1 1 1 1 0 -4 3 1 -5 -1 2 -5 0 1 12 3 0 3 5 3 3 9 4 9 7 0 9 5 0 4 11 0 4 8 0.21 1.85
213 K -1 1 0 2 1 0 0 -1 1 -1 -1 0 1 0 1 -1 0 -5 0 -1 6 7 4 10 3 5 5 4 3 4 8 7 3 4 8 5 6 0 3 5 0.07 2.08
231 Y 0 0 -4 -4 -2 -2 -2 -3 -4 -1 0 2 1 2 -4 -1 -2 6 4 -1 10 6 0 1 1 1 3 2 0 3 8 14 4 8 1 4 2 13 15 5 0.52 1.95
305 A 3 -4 -5 -5 2 -4 -4 -4 -5 1 2 -4 -2 0 -4 -2 -3 -5 -3 5 24 0 0 0 4 0 0 0 0 7 17 0 0 3 0 3 0 0 0 41 0.71 1.09
Multiple Sequence Alignment
We calculated our MSA using T-Coffee
Table of Results
| Pos. | Mutation | Blosum Score | Worst? | PAM250 Score | Worst? | PAM1 Score | Worst? | PSSP Mutated | Wildtype | MSA Mutated | Wildtype | Polyphen Prediction | Score | Sift Prediction | Score | Median Conservation | SNAP Prediction | Reliability | Exp. Accuracy |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Tyr->Cys | 0 | -2 | no | -0.5 | no | 3 | no | -2 | 15 | 0.0% | 73.7% | damaging | 1.0 | affect | 0.00 | 3.02 | Non-neutral | 5 | 87% |
| Ala->Glu | 0 | -1 | no | 0 | no | 17 | no | -4 | 3 | 0.0% | 68.8% | damaging | 1.0 | affect | 0.02 | 3.14 | Non-neutral | 3 | 78% |
| Arg->His | 0 | 0 | no | 0.6 | no | 8 | no | -1 | 8 | 0.0% | 100.0% | damaging | 1.0 | affect | 0.01 | 3.02 | Non-neutral | 6 | 93% |
| Glu->Gly | 0 | -2 | no | -0.8 | no | 7 | no | -5 | 8 | 0.0% | 100.0% | damaging | 1.0 | affect | 0.00 | 3.02 | Non-neutral | 7 | 96% |
| Cys->Arg | 0 | -3 | yes | -2.2 | yes | 1 | no | -3 | 3 | 0.0% | 100.0% | damaging | 0.999 | affect | 0.01 | 3.07 | Non-neutral | 6 | 93% |
| Met->Thr | 0 | -1 | no | -0.6 | no | 6 | no | 14 | 2 | 0.0% | 57.9% | benign | 0.0 | tolerated | 0.16 | 3.02 | Non-neutral | 0 | 58% |
| Thr->Ile | 0 | -1 | no | -0.6 | no | 7 | no | 1 | 16 | 0.0% | 73.7% | damaging | 1.0 | affect | 0.04 | 3.07 | Non-neutral | 2 | 70% |
| Pro->His | 0 | -2 | no | -1.1 | no | 3 | no | 0 | 4 | 5.3% | 94.7% | damaging | 1.0 | affect | 0.00 | 3.07 | Non-neutral | 6 | 93% |
| Met->Arg | 0 | -1 | no | -1.7 | no | 4 | no | -1 | 3 | 0.0% | 94.7% | damaging | 0.991 | affect | 0.03 | 3.04 | Non-neutral | 5 | 87% |
| Lys->Glu | 0 | 1 | no | 1.2 | no | 4 | no | 0 | 0 | 0.0% | 73.7% | benign | 0.014 | tolerated | 0.83 | 3.02 | Neutral | 3 | 78% |
