Disease Causing Mutations Databases or database for predicting the functional consiquence of the mutation

Question

[SUMIT]

I would like to analyze the functional consequence of the mutation in the protein-coding region of the human genome like in TP53 or EGFR etc. I tried Annovar, VEP, SIFT, polyphen, etc but as far as know that most of the output from these tools is based on some predefined criteria rather than literature or experiments. Therefore output from these tools may not be biologically relevant or correct unless validated by experiments. I am searching for the database that host the information about biological consequence validated from experiment and also continually updated from the published literature.

Human genome Pathogenicity database would also work but I need database which is continuously updated or recently released/published.

Please help me. Thanks in advance.

Answer 1

[Kevin Blighe]

Hi,

Please consider ClinVar for clinically-relevant variants.

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For pathogenicity / 'functional' predictions, there are many tools: How to choose good tools for identifying functional SNPs?

A program called ANNOVAR can annotate your variants with scores pertaining to many of the listed tools.

Kevin

[SUMIT]

Dear Kevin, Thank you so much for your precious help. You are very knowledgeable person in this field. I will check the shared link and suggested tools. Thank you so much, dear.

Sumit