Name of Variant | Location | Analysis by NNSPLICE | Analysis by AST | Alamut | Uni prot report | Poly Phen |
---|---|---|---|---|---|---|
c.190+4A>T | Intron 2 | Before mutation the score was 0.54. After mutation,not recognized as splice site | Before change the score was 70.3 and ΔG -3.6 After mutation the score was 60.32 and ΔG -3.0 |  |  |  |
c.301G>A;p.Glu101Lys | Exon 3 | Â | Â | Possibly pathogenic as reported by UniProt (FTId: VAR_005315) | Change from medium size and acidic (E) to large size and basic (K) | Â |
c.415G>C;p.Asp139His | Exon 4 | Â | Â | Â | Â | Changes in amino acid. Disruption of ligand binding site |
c.601G>A;p.Glu201Lys | Exon 4 | Â | Â | Â | Â | Changes in amino acid. Disruption of ligand binding site |
c.763T>A;p.Cys255Ser | Exon 5 | Â | Â | Â | Â | Changes in amino acid. Disruption of ligand binding site |
c.1706_1845dup;p.Asp616IlefsX96 | Exon 12 | Â | Â | Pathogenic | This duplication creates a frame shift starting at codon Asp616. The new reading frame ends in a STOP codon 95 positions downstream. The mRNA produced might be targeted for nonsense mediated decay (NMD). | Â |
c.1996_2012del;p.Trp666ProfsX45 | Exon 14 | Â | Â | Pathogenic | This deletion creates a frame shift starting at codon Trp666. The new reading frame ends in a STOP codon 44 positions downstream. The mRNA produced might be targeted for nonsense mediated decay (NMD). | Â |
c.2100C>G;p.Asp700Glu | Exon 14 | Â | Â | Possibly pathogenic as reported by UniProt (FTId: VAR_005412) | Change in 3 D structure of protein | Â |