Forum:Discussion on effects of Gain-of-Function mutations

Question

[German.M.Demidov]

Dear community members,

I would like to ask you to share anything you think about this topic.

We know that there are 2 main classes of "active" short variants in protein coding regions of genes - loss-of-function and gain-of-function. Frameshit/truncating/splicing errors/etc mutations are usually considered loss-of-function while missense mutations as gain-of-function.

Do you know how often this gain-of-function actually gives some novel function to the gene and not leads to a simply non-functioning protein (similar to LoF)?

I am asking because many people insist on the separation of LoF from GoF mutations in the analysis - however for me they don't seem much different, many missense variants are benign, but the ones that are functional, in my logic, should be LoF...

I'd be grateful for any information on this topic!

Answer 1

[GenoMax]

This answer from a recent thread will be useful : A: Is there a tool to predict if a missense variant causes a loss of function on th

@Mensur's answer also.

[German.M.Demidov]

Hi GenoMax, this is the answer to my question actually =) thank you very much!