Upload a screenshot from NCBI BLAST showing a nucleotide alignment of the mutant cDNA sequence used in your BLAST search and the corresponding reference gene sequence; include the translated polypeptide sequence of both the variant allele and reference. Just show the region (~500 bp) containing the putative pathogenic (disease causing) mutation – NOT the entire alignment.

Annotate this screen shot to highlight:

i) the location of the variant

ii) the effect of the variant on the protein sequence of the variant allele