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Table 2 Type and frequency of GAA variants of the patients

From: Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

Type of variants Nucleotide change Effect on protein Location Frequency
Missense c.655G>A p.Gly219Arg Exon 3 1/36
c.854C>G p.Pro285Arg Exon 4 1/36
c.875A>G p.Tyr292Cys Exon 5 1/36
c.925G>A p.Gly309Arg Exon 5 1/36
c.1328A>T p.Asp443Val Exon 9 2/36
c.1655T>C p.Leu552Pro Exon 12 1/36
c.1831G>A p.Gly611Ser Exon 13 1/36
c.2104C>T p.Arg702Cys Exon 13 1/36
c.2065G>A p.Glu689Lys Exon 15 1/36
c.2237G>C p.Trp746Ser Exon 16 1/36
Nonsense c.2819C>A p.Ser940Ter Exon 20 1/36
Deletion or insertion c.236_246del p.Pro79fsArgfs*13 Exon 2 3/36
  c.281_282delCT Pro94Argfs*51 Exon 2 1/36
  c.1396_1397insG p.Val466fs*39 Exon 9 2/36
Splicing variant c.-32-13T>C Intron 1 17/36
  c.1889-1G>A Intron 13 1/36