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Table 4 Specific activity of GAA mutants in transiently transfected COS-7 cells and severity rating

From: Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

Variant GAA activitya Severity rating
Medium Cell lysates M110 C110 C95 C76 M%Wt C%Wt Class
Wild type 60.5 631.3 (± 44.5) 4,4 4,4 4,4 4,4 100 100 -
p.Ala261Thr 3.31 478.3 3,4 4,4 4,4 4,4 5.47 75.8 D/E
p.Tyr292X 0 0 1,1 2,4 2,4 2,4 0 0 B
p.Asp513Gly 0 4.8 1,1 3,4 2,4 2,4 0 0.76 B
p.Leu632Arg 0.05 0.1 1,1 3,4 2,4 2,4 0.83 0.02 B
  1. aSpecific activity of the wild type GAA and its mutants in transiently transfected COS-7 cells (nmol 4-MU/hr/mg protein). M%Wt and C%Wt mean the relative GAA activity normalized by the wild type GAA activity of medium and cell lysates, respectively. M110, C110, C95, C76 are the GAA protein masses detected by western blotting at 100, 95, and 76 kDa from medium (M) and cell lysate (C), respectively. Two digit numbers indicate the quantity and quality of GAA protein; 4 represents as normal while 3, 2 and 1 mean lower quantity and quality of GAA protein, respectively