Forum

Genetics results|(for the experts out there)

Analysis of a sample of Genomic DNA from patient (me) has shown that she is heterozygous for a c.343C>T sequence variant in exon 1 of spast SPAST gene,predicted to result in the p.ARG115Cys protein change.This variant has not been reported previously in the literature or previously identified in this laboratory.It involves a non-conservative chjange in a moderately conserved amino acidwhich is not located within a mutational hotspot but is close to the microtubule interaction and trafficking domain of the spastin protein. In silico analysis of the p.ARG115Cys variant is inconclusive.Therefore in the absence of functional studies,the clinical significance of this sequence variant remains unclear. I only understand some of this,but I definitely unique :lol: :lol: :lol: