Table 3 Variants present (compound heterozygosity) in the GUSB gene of the patient with MPS VII
From: Analysis of genomic ancestry and characterization of a new variant in MPS type VII
Variant (cDNA) | Variant (protein) | Exon | Prediction the effect of the variant on the protein | ||||
|---|---|---|---|---|---|---|---|
PolyPhen | PROVEAN | SIFT | HOPE | Mutation Taster | |||
c.526C>T | p.Leu176Phe | 3 | Deleterious | NP | Deleteriousa | Deleterious | Deleterious |
c.875T>C | p.Leu292Pro | 5 | Deleterious | Deleterious | Possibly deleterious | Possibly deleterious | Deleterious |