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Table 3 Nonsense/missense variants identified in exon 13 of GNPTAB of humans and feline ML II patients

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
  1. aHMD: The Human Gene Mutation Database, http://www.hgmd.cf.ac.uk, accessed April 2018