Silent mutations
Created by: lossinc
HGVS stipulates that synonymous/silent single-base exchanges should specify the non-affected amino acid (e.g., “p.Cys188=”, see here). Frankly, I wasn’t aware of this rule; I have been using p.= instead (leaving out the prediction parentheses here), but p.= is reserved to imply that there are no changes anywhere in the protein. Mutalyzer seems to make the same mistake, based on a recent check for NM_001290469.1:c.2406G>A, which ought to result in p.(Leu802=), no?
https://mutalyzer.nl/name-checker?description=NM_001290469.1%3Ac.2406G%3EA
I might be wrong here, but I think p.(Leu802=) ought to be used.
Note: In this particular Mutalyzer example, I think the reference protein sequence as well as that of the unchanged protein sequence ought to be shown, both with Leu802 highlighted in red. Just a suggestion for user convenience.