Skip to main content

Table 5 Summary of all reported GNPTAB mutations in East Asian patients with ML II/III

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

Mutation type Nucleotide change Amino acid change Exon no. Reference Allele frequency Ethnicity
Missense c.992A > G p.Tyr331Cys 9 This study 0.9% (1/120) KOR
Missense c.1001G > T p.Arg334Leu 9 [15] 0.9% (1/120) JPN
Missense c.1120 T > C p.Phe374Leu 10 [15] 6.7% (8/120) JPN
Missense c.2866C > T p.His956Tyr 14 [15] 1.8% (2/120) JPN
Missense c.3458A > G p.Asn1153Ser 19 [15] 0.9% (1/120) JPN
Nonsense c.310C > T p.Gln104* 3 [13, 15], This study 5.3% (6/120) KOR, JPN
Nonsense c.1071G > A p.Trp357* 9 [16], This study 2.7% (3/120) KOR, CHN
Nonsense c.1090C > T p.Arg364* 9 [16, 23], This study 5.9% (7/120) KOR, CHN
Nonsense c.2666 T > A p.Leu889* 13 This study 0.9% (1/120) KOR
Nonsense c.2681G > A p.Trp894* 13 [13, 15], This study 3.4% (4/120) KOR, JPN
Nonsense c.3091C > T p.Arg1031* 15 [14] 0.9% (1/120) KOR
Nonsense c.3173C > G p.Ser1058* 16 [13] 0.9% (1/120) KOR
Nonsense c.3565C > T p.Arg1189* 19 [13, 15, 24], This study 32.5% (39/120) KOR, JPN, CHN
Frameshift c.471_472delTT p.Tyr158Serfs*8 5 This study 0.9% (1/120) KOR
Frameshift c.914_915insA p.Asp305fs 8 [15] 0.9% (1/120) JPN
Frameshift c.2089_2090insC p.Leu697fs 13 [15] 1.8% (2/120) JPN
Frameshift c.2189delT p.Leu730fs*7 13 This study 0.9% (1/120) KOR
Frameshift c.2422delC p.Leu808fs*19 13 [24] 0.9% (1/120) CHN
Frameshift c.2427delC p.Leu810fs 13 [15] 0.9% (1/120) JPN
Frameshift c.2544delA p.Lys848fs 13 [15] 1.8% (4/120) JPN
Frameshift c.2574_2575delGA p.Asn859Glnfs*2 13 [13], This study 2.5% (3/120) KOR
Frameshift c.2693delA p.Lys898fs 13 [15] 0.9% (1/120) JPN
Frameshift c.3310delG p.Ala1104fs 17 [15] 0.9% (1/120) JPN
Frameshift c.3388_3389insC + c.3390C > T p.Val1130fs 18 [15] 0.9% (1/120) JPN
Frameshift c.3428_3429insA p.Asn1143fs 18 [15] 0.9% (1/120) JPN
Frameshift c.3456_3459dupCAAC p.Ile1154Glnfs*3 19 [14] 0.9% (1/120) KOR
Frameshift c.3474_3475delTA p.His1158fs*15 19 [13] 0.9% (1/120) KOR
Frameshift c.3741_3744delAGAA p.Glu1248fs 21 [15] 0.9% (1/120) JPN
Frameshift duplication exon2 Frameshift 2 [15] 5.0% (6/120) JPN
Splicing c.637-6 T > G p.Thr213Phefs*11 IVS6 This study 1.8% (2/120) KOR
Splicing c.2715 + 1G > A - IVS13 [13, 15, 23] 7.5% (9/120) KOR, JPN, CHN
  1. CHN Chinese, JPN Japanese, KOR Korean