How To Map Dna Sequence Changes Or Mutations To Protein Sequence?
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10.2 years ago
Nims ▴ 90

I am quite taken by this question, if I have bunch of DNA changes or mutations for a gene then how do I map it to its equivalent protein seq changes? Even-though I am aware of how gene/dna sequence is translated but the problem is with ambiguity. E.g. if you see here under sequence references you will find there is no standard FASTA, instead there are >1 isoforms. So how do I map a change given in EGFR gene to EGFR protein?

Lets say c.76A>C to protein seq or c.76_78del to protein seq.

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