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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
Amino acid Serine
Amino acid Isoleucine
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)

Conservation Analysis with Multiple Alignments

Mutation in the multiple alignment

Secondary Structure Mutation Analysis


Comparison with the real structure:

Mutation at position 293
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 legend.png
293 sift.png.png

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 ToleratedPositionSeq RepPredict Tolerated

PolyPhen2 Prediction

HumDiv prediction
HumVar prediction