Nonsense mutation analysis
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5.7 years ago

What are the best bioinformatics tools for analyzing the effect of nonsense mutations? Thanks in advance

Mutation • 1.2k views
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what did you find so far ?

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Just try your CDS (combination of exons (transcript or transcripts if it alternatively spliced without introns) at Expasy Translate tool or ORF finder from NCBI to see whether the sequence you have has premature stop codon compare to wild sequence?

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First of all thank you so much for your reply I have checked in the ORF, it has premature stop codon and terminal 22 amino acids got truncated Total length of the coded protein is 207 amino acids.

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5.7 years ago

Great, also try to use tblastx using your nucleotide sequence as query to search against translated nucleotide database and you can see any wild or mutated version of protein from NCBI. Also try BLASTP and PSIBLAST.

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