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

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