I have a variant in a gene that has been linked to a phenotype. However this gene is associated with a number of different phenotype based on where a mutation lies in this gene; that is variants in the early exons 2-10 may cause cardiac issues, similarly variants in exons 22-25 have neuron migration issues.
My problem is there is a variant in exon 36 which hasn't been associated with a specific phenotype I am curious if there is any visualization software or ways to understand the corresponding protein structure of this gene. I would then compare this region(s) to exons 2-10 regions vs exons 22-25 region(s).
The gene is FLNA for those who are curious. I have tried pymol but am unfamiliar with what I am looking at. Additionally I have used NCBI and found it to be moderately conserved .
thanks!
