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Table 4 Reported PHKA2 mutations in Asian patients with glycogen storage disease (GSD) type IX

From: PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations

Ethnicity Exon number Nucleotide change Amino acid change Mutation type Reference
Point mutation     
Chinese 2 c.136delG p.Asp46Ilefs*37 Frameshift [31]
Japanese 4 c.346 T > G p.Tyr116Asp Missense [32]
Japanese 6 c.578G > T p.Gly193Val Missense [32]
Japanese 9 c.883C > T p.Arg295Cys Missense [25]
Korean 9 c.884G > Aa p.Arg295His Missense [8], This study
Japanese 15 c.1489C > T p.Arg497* Nonsense [25]
Japanese 16 c.1697A > T p.Ile566Asn Missense [33]
Japanese 32 c.3505C > T p.Gln1169* Nonsense [25]
Japanese, Chineseb 33 c.3614C > T p.Pro1205Leu Missense [22, 24, 32, 34]
Splicing mutation     
Japanese 2 c.79-1G > T Exon 2 skipping Splicing [25]
Korean IVS5 c.537 + 5G > A ?c Splicing [6], This study
Japanese 25 c.2675A > G Exon 25 skipping Splicing [32]
Chinese 30 c.3112-1G > A Exon 30 skipping Splicing [31]
Deletion mutation     
Korean 30 c.3210_3212delGAG p.Arg1072del Small deletion [18, 19], This study
Korean 8   Exon 8 deletion Gross deletion [13], This study
Korean 18–33   Exon 18–33 deletions Gross deletion This study
Japanese 20–26   Exon 20–26 deletions Gross deletion [29]
Korean 27–33   Exon 27–33 deletions Gross deletion [6], This study
  1. aThis mutation has been reported previously in two patients with GSD IX and is predicted to affect protein function by in silico analyses (SIFT and PolyPhen-2) and to affect splicing, potentially through activation of an exonic cryptic donor site, by both Human Splice Finder software and by a machine-learning technique that scores how strongly genetic variants affect RNA splicing [27]
  2. bThis mutation has been reported as a founder mutation in the Dutch population
  3. cAlthough in vitro analysis for the splicing effect of c.537 + 5G > A was not performed, in vivo results confirming phosphorylase b kinase deficiency have been reported to constitute a pathogenic mutation in a patient with GSD IX in previous literature. This mutation was predicted to affect splicing, potentially through alteration of the wild-type donor site