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Table 2 The recurrent ALPL gene mutations found in the 53 patients affected with mild HPP and carrying two mutated alleles.

From: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

Mutation Activity (% WT) Frequency
c.571G>A (p.E191K)/other 56–88a 0.547
c.526G>A (p.A176T)/other 30.2–45.4a 0.094
c.407G>A (p.R136H)/other 33.4 0.075
c.1363G>A (p.G455S)/other 71.0 0.038
c.815G>A (p.R272H)/other 6.8 0.038
c.395C>T (p.A132V)/other 16.9 0.019
other/other   0.189
Total   1.000
  1. a According to this study and according to Zurutuza et al. [19]