General Information
| SNP-id
|
rs61747114
|
| Codon
|
248
|
| Mutation Codon
|
Leu -> Phe
|
| Mutation Triplet
|
CTT -> TTT
|
Pysicochemical Properities
| Leu
|
Phe
|
consequences
|
| aliphatic, hydrophobic, neutral
|
aromatic, hydrophobic, neutral
|
Leu is an aliphatic amino acid, wheras Phe is an aromatic amino acid. This means, that Phe has an aromatic ring in its structure. But both amino acids are relatively big and so it is possible, that the exchange of this amino acids do not change the structure of the protein that much. Therefore, we suggest it is possible, that the protein will work.
|
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
|
| 13
|
45 (Met)
|
0 (Asp, Cys)
|
13
|
20 (Met)
|
2 (Cys)
|
0
|
2 (Ile, Met)
|
-4 (Asp, Gly)
|
PSSM analysis
|
|
self-information
|
expected self-information
|
| Leu
|
1
|
13
|
| Phe
|
-3
|
1
|
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 248 - detailed view |
SNAP Prediction
| Substitution
|
Prediction
|
Reliability Index
|
Expected Accuracy
|
| F
|
Neutral
|
3
|
78%
|
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 |
|---|
| | | | | | | | c | w | p | e | n | k | g | r | s | t | h | a | Q | 248L | 1.00 | Y | I | D | V | F | M | L | | | | | | | | | | | | | |
|---|
|
PolyPhen2 Prediction
