retrieve AA sequence change from a frameshift mutation

Question

[cocchi.e89]

I am trying to visualize the effect of a particular frameshift mutation in COL4A5 gene of a patient (human)

NM_033380.1(COL4A5): c.2777del p.(Gly926Alafs*70)

I know (correct me if I'm wrong) that this mutation causes a frameshift where the FIRST AA changed is the Glycin in position 926 that becomes a Alanine, and that the altered reading frame stop at the next termination codon in position 926+70=996 of the AA sequence

I was wondering if there is a way to obtain the new AA sequence, including all the other AA changed, in order to visualize them later (for which I found this I-TASSER tool but any other suggestion is more than welcomed, possibly free)

I searched online but I found no clear indication for that...

Thank you very much in advance for any help!

[Joe]

If you know the wild-type sequence, and you know the substitution you need to make - why not just make it by hand? You can then run the doctored sequence through a translation tool with the relevant translation table and you'll have your protein sequence for ITASSER etc?

Answer 1

[KevinL]

Curious to know how others do it personally I search in https://franklin.genoox.com/variant/snp/chrX-107865913-TG-T

to understand the genomic / DNA changes. grab that sequence and to a translate to get the AA sequence.

which I guess u can use for your 3d visualisation.