From: A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease)
Species | HMDa Accession # | cDNA | Protein | Reference |
---|---|---|---|---|
Human | CM100341 | c.1759C > T | p.Arg587* | [20] |
CM144660 | c.1774G > A | p.Ala592Thr | [23] | |
CM101198 | c.1875C > G | p.Phe624Leu | [24] | |
CM094378 | c. 1999G > T | p.Glu667* | [23] | |
CM098787 | c.2196G > T | p.Lys732Asn | [25] | |
CM144659 | c.2354 T > G | p.Lue785Trp | [23] | |
CM053908 | c.2533C > T | p.Gln845* | [26] | |
CM100342 | c.2664C > G | p.Tyr888* | [20] | |
CM053913 | c.2681G > A | p.Trp894* | [27] | |
Feline | NA | c.2644C > T | p.Gln882* | This study |