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Table 4 GNPTAB mutations in 13 Korean patients with ML II/III

From: Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis

Mutation type Exon no. Nucleotide change Amino acid change No. of alleles Reference
Missense 9 c.992A > G p.Tyr331Cys 1 This study
Nonsense 3 c.310C > T p.Gln104* 2 [13], This study
Nonsense 9 c.1071G > A p.Trp357* 1 This study
Nonsense 9 c.1090C > T p.Arg364* 1 This study
Nonsense 13 c.2666 T > A p.Leu889* 1 This study
Nonsense 13 c.2681G > A p.Trp894* 2 [13], This study
Nonsense 15 c.3091C > T p.Arg1031* 1 [14]
Nonsense 16 c.3173C > G p.Ser1058* 1 [13]
Nonsense 19 c.3565C > T p.Arg1189* 5 [13], This study
Frameshift 5 C.471_472delTT p.Tyr158Serfs*8 1 This study
Frameshift 13 c.2189delT p.Leu730fs*7 1 This study
Frameshift 13 c.2574_2575delGA p.Asn859Glnfs*2 3 [13], This study
Frameshift 19 c.3456_3459dupCAAC p.Ile1154Glnfs*3 1 [14]
Frameshift 19 c.3474_3475delTA p.His1158fs*15 1 [13]
Splicing IVS6 c.637-6 T > G p.Thr213Phefs*11 2 This study
Splicing IVS13 c.2715 + 1G > A - 2 [13]