PON-PS

PON-PS predicts the phenotypic severity due to amino acid substitutions. The method is trained by using severe and mild/moderate (called as non-severe) disease-causing variations and uses evolutionary conservation, properties of amino acids and sequence environment for prediction. PON-PS uses the PON-P2 predictor to filter out benign variations. The severity of the remaining variants are predicting by an ensemble of 100 random forest predictors.

The training and test datasets used in PON-PS are available in VariBench database.

The manuscript describing the method has been published in Human Mutation here.

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PON-PS prediction

Fasta format amino-acid sequence(s)
Example:
 >ADA_HUMAN
MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPD
FLAKFDYYMPAIAGCREAIKRIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQA
EGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPNWSPKVVELCKKYQQQTVVAI
DLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGY
HTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIF
KSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAG
QNL

Or upload fasta format sequence(s) as a file (max. 10MB):

Variation(s)
Example:
>ADA_HUMAN
R101H
R101L
S291L




Or upload variation(s) as a file (max. 10MB):

Email (Please provide your e-mail address to get the results when they are ready. Please provide an email id that allows to receive attachments).