Table 3 Analysis of variants by bibliography and in silico predictive tools
Nucleotide change | Effect on protein | ClinVar | Mutation taster | PolyPhen-2 | VarSome | HGMD | Pompe database |
|---|---|---|---|---|---|---|---|
Described mutations | |||||||
c.-32-13T>G | – | Pathogenic | – | – | Pathogenic | 33 | Potentially mild |
c.236_246del | p.Pro79fsArgfs*13 | Pathogenic | Disease causing | – | Pathogenic | 34 | Very severe |
c.281_282delCT | Pro94ArgfsTer51 | Likely pathogenic | Disease causing | – | Pathogenic | – | – |
c.655G>A | p.Gly219Arg | Pathogenic | Disease causing | Probably damaging | Pathogenic | 35 | Potentially less severe |
c.854C>G | p.Pro285Arg | Pathogenic | Disease causing | Probably damaging | Likey pathogenic | 36 | Potentially mild |
c.875A>G | p.Tyr292Cys | Pathogenic | Disease causing | Probably damaging | Pathogenic | 37 | Potentially mild |
c.925G>A | p.Gly309Arg | Pathogenic | Disease causing | Probably damaging | Pathogenic | 38 | Potentially less severe |
c.1396_1397insG | p.Val466fs*39 | Not described | Disease causing | – | Pathogenic | – | – |
c.1655T>C | p.Leu552Pro | Pathogenic | Disease causing | Probably damaging | Pathogenic | 39 | Potentially less severe |
c.2065G>A | p.Glu689Lys | Conflicts of interpretation | Polymorphism | Likely bening | Benign | 40 | – |
c.2104C>T | p.Arg702Cys | Pathogenic | Disease causing | Probably damaging | Pathogenic | 41, 42 | Potentially less severe |
c.2237G>C | p.Trp746Ser | Not described | Disease causing | Probably damaging | Pathogenic | 43 | Potentially less severe |
Novel mutations | |||||||
c.1328A>T | p.Asp443Val | Not described | Disease causing | Probably damaging | Likely pathogenic | – | – |
c.1831G>A | p.Gly611Ser | Not described | Disease causing | Probably damaging | Pathogenic | – | – |
c.1889-1G>A | – | Not described | Disease causing | – | Pathogenic | – | – |
c.2819C>A | p.Ser940Ter | Not described | Disease causing | – | Likely Pathogenic | – | – |