Table 1

Types of GLA variants reported in the Human Gene Mutation Database

GLA variant typesNumber% of total
Missense (pathogenic with classic or later-onset phenotypes, or benign with no or unspecific, Fabry disease-unrelated phenotype)60561.0
Nonsense (pathogenic with classic phenotype)848.5
Splicing substitutions (pathogenic with classic or later-onset phenotypes)494.9
Frameshift (pathogenic with classic phenotype)*25325.5
 Small deletions†14014.1
 Gross deletions393.9
 Small insertions/duplications434.3
 Gross insertions/duplications80.8
 Small indels161.6
 Complex rearrangements (including inversions)70.7
  • *Small and gross are arbitrarily defined as 20 or less and more than 20 nucleotides, respectively.

  • †Some small deletions occur in-frame and do not necessarily lead to premature termination of mRNA translation.