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SNPs&GO
Predicting disease associated variations using GO terms
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Required Inputs
SNPs&GO and SNPs&GO3d have been
optimized to predict if a given single
point protein variation can be classified as disease associated or
neutral. SNPs&GO requires in input:
- Protein Sequence:
Protein Sequence: sequence-based SNPs&GO server requires the protein
sequence that can be provided in three different ways: 1) raw format,
2) Swiss-Prot code; 3) uploading a text file containing the protein
sequence. The server first checks the Protein Sequence box, if no
sequence is provided it then checks if a text file has been uploaded.
If both options have not been selected the server expects to receive
in input the SwissProt code of the protein.
- GO terms: although this input is
optional functional information
significantly increases the accuracy of the method. If GO terms are
not provided the expected accuracy of the method is comparable with
PhD-SNP. GO terms used for the prediction are automatically retrieved
only if the input sequence is a Swiss-Prot code. If not, user has to
manually provide the GO terms and the server will automatically find
all their parents
- Mutation: the server requires a list of
comma separated mutations in
the XPOSY format where X and Y are the wild-type and mutant residues
respectively, and POS is the number of the mutated position in the
sequence.
- All Methods:with this option the server
will performs predictions
using PhD-SNP and SNPs&GO methods. If not checked only the
prediction from SNPs&GO will be returned.
If not checked only prediction from SNPs&GO will be returned;
The structure based algorithm SNPs&GO3d takes in input:
- Protein Structure: the
protein structure can be provided using the PDB
code or uploading your own PDB file.
- GO terms:
although this input is optional functional information
significantly increase the accuracy of the method. If GO terms are not
provided the expected accuracy of the method is comparable with
S3D-PROF. GO terms used for the prediction are automatically retrieved
only if the input sequence is a Swiss-Prot code. If not, user has to
manually provide the GO terms and the server will automatically find
all their parents.
- Mutation:the server requires a list of
comma separated mutations in
the XPOSY format where X and Y are the wild-type and mutant residues
respectively, and POS is the number of the mutated position in the
sequence.
- All Methods:
with this option the server will performs predictions
using S3D-PROF and both SNPs&GO and SNPs&GO3d
methods. If not checked only prediction from
SNPs&GO3d will be
returned.
The results of both algorithms can be sent to
your e-mail address filling
the appropriate box or displayed interactively if you do not enter any
e-mail address.
Output
The output consists of a table listing the number of the mutated position
in the protein sequence, the wild-type residue, the new residue and if the
related mutation is predicted as disease-related (Disease or as neutral
polymorphism Neutral).
The RI value (Reliability Index) is evaluated from the output of the
support vector machine O as
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More details about the output of the server are reported below.
Mutation: WT+POS+NEW
WT: Residue in wild-type protein
POS: Residue position
NEW: New residue after mutation
Prediction:
Neutral: Neutral variation
Disease: Disease associated variation
RI: Reliability Index
Probability: Disease probability (if >0.5 mutation is predicted Disease)
Method: SVM type and data
PANTHER: Output of the PANTHER algorithm
PhD-SNP: SVM input is the sequence and profile at the mutated position
S3D-PROF: SVM input is the structure and profile at the mutated position
SNPs&GO: SVM input is all the input in PhD-SNP, PANTHER and GO terms features
S3Ds&GO: SVM input is all the input in S3D-PROF, PANTHER and GO terms features
F[X]: Frequency of residue X in the sequence profile
Nali: Number of aligned sequences in the mutated site
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