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Table 3 Mutations identified in the enrolled subjects:

From: Molecular study of Pompe disease in Egyptian infants

Case no Base change Amino acid change Exon Variant type Allele Clinical significance
1 c.1193T > C p.Leu398Pro 7 Missense* Homozygous Pathogenic
2 c.1193T > C p.Leu398Pro 7 Missense* Homozygous Pathogenic
3 c.1431del p.Ile477Metfs*43 9 Frame shift Homozygous Pathogenic
4 c.1134C > G p.Tyr378* 7 Nonsense Homozygous Pathogenic
5 c.868A > G
c.2238G > C
p.Asn290Asp
p.Trp746Cys
5
16
Missense
Missense
Heterozygous
Heterozygous
Pseudo deficiency
Pathogenic
  1. *Novel mutation
  2. c.1193 T>C (SCV000998899)