General Information
| SNP-id
|
rs1054374
|
| Codon
|
293
|
| Mutation Codon
|
Ser -> Ile
|
| Mutation Triplet
|
AGT -> ATT
|
Pysicochemical Properities
| Ser
|
Ile
|
consequences
|
| polar, tiny, hydrophilic, neutral
|
aliphatic, hydrophobic, neutra
|
Ile is much bigger than Ser and also is branched, because it is an aliphatic amino acid. Therefore the structure of both amino acids is really different and Ile is to big for the position where Ser was. Therefore, there has to be a big change in the 3D structure of the protein and the protein probably will loose its function.
|
Visualisation of the Mutation
| picture original aa
|
picture mutated aa
|
combined picture
|
|
|
|
 Picture which visualize the mutation |
Subsitution Matrices Values
| PAM 1
|
Pam 250
|
BLOSOUM 62
|
| value aa
|
most frequent substitution
|
rarest substitution
|
value aa
|
most frequent substitution
|
rarest substitution
|
value aa
|
most frequent substitution
|
rarest substitution
|
| 2
|
38 (Thr)
|
1 (Leu)
|
5
|
9 (Ala, Gly, Pro, Thr)
|
3 (Phe)
|
-2
|
1 (Ala, Asn, Thr)
|
-3 (Trp)
|
PSSM analysis
|
|
self-information
|
expected self-information
|
| Ser
|
1
|
10
|
| Ile
|
1
|
7
|
Conservation Analysis with Multiple Alignments
Mutation in the multiple alignment
Secondary Structure Mutation Analysis
JPred:
...HHHHHHHHCCCEEEECCCCCHHHHHHHHHCCCCCCCCCCCCCCCCCCCCCCCCCC...
PsiPred:
...HHHHHHHHCCCEEEECCCCCHHHHHHHHCCCCCCCCCCCCCCCCCCCCCCCCCCH...
Comparison with the real structure:
|
|
 Mutation at position 293 - detailed view |
SNAP Prediction
| Substitution
|
Prediction
|
Reliability Index
|
Expected Accuracy
|
| I
|
Neutral
|
2
|
69%
|
A detailed list of all possible substitutions can be found [here]
SIFT Prediction
SIFT Matrix:
Each entry contains the score at a particular position (row) for an amino acid substitution (column). Substitutions predicted to be intolerant are highlighted in red.
SIFT Table
Threshold for intolerance is 0.05.
Amino acid color code: nonpolar, uncharged polar, basic, acidic.
Capital letters indicate amino acids appearing in the alignment, lower case letters result from prediction.
| Predict Not Tolerated | Position | Seq Rep | Predict Tolerated |
|---|
| | | | | | | | w | g | h | y | d | r | n | f | q | e | k | c | p | 293S | 1.00 | M | l | A | S | V | T | I | | | | | | | | | | | | | |
|---|
|
PolyPhen2 Prediction
