Question: Reading splice daa
0
gravatar for oatgoat
6 months ago by
oatgoat0
oatgoat0 wrote:

New to this field. I have a dataset where the mutation type is splice and the alteration is coded "c.673-3T>G". How to interpret this? How do i translate this into what protein change has occoured ie what codon? Thanks

next-gen • 240 views
ADD COMMENTlink modified 6 months ago by Devon Ryan78k • written 6 months ago by oatgoat0
1

do you have access to the associated RNA-Seq ? If yes first take a look in IGV

ADD REPLYlink written 6 months ago by Nicolas Rosewick6.2k
0
gravatar for Devon Ryan
6 months ago by
Devon Ryan78k
Freiburg, Germany
Devon Ryan78k wrote:

If this is a change in a splice site then there may not be a change in the protein sequence at all, there might simply be no protein. Or maybe there's less protein. Or maybe there's a switch in the isoform usage.

ADD COMMENTlink written 6 months ago by Devon Ryan78k
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