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. 2021 Dec 18;16:516. doi: 10.1186/s13023-021-02146-z

Table 2.

Distribution of mutations or predictable pathogenic variants in each subject

Variant No Nucleotide change Amino acid change Subject ID
25 34 39 89 99 66 111 122 137 112 132 119 45 118 141 105 42 72 76 100 28 13 128 69 135 29 31 60 74 125 126 146 144 83 33 51 3 17 64 129
2 c.317G > A p.R106H ○ ○ ○ ○ ○ ○ ○ ○ ○
4 c.439G > A p.G147S ○
5 c.503G > C p.R168P ○
6 c.538_542delCACTT p.H180Hfs*7
7 c.546G > T p.T182 =  ○ ○ ○ ○
8 c.546 + 5G > T – ○
14 c.547-27A > G –
21 c.752C > T p.S251L
22 c.761C > T p.S254L
23 c.796C > T p.P266S ○
28 c.1082 C > A p.P361Q ○
29 c.1124 G > A p.R375H ○
31 c.1170delC p.N390Kfs*2 ○
32 c.1190C > T p.P397L ○
35 c.1244C > T p.T415M
36 c.1309C > T p.R437C ○
37 c.1316 T > A p.M439K ○ ○ ○ ○ ○ ○ ○
43 c.1494G > A p.W498* ○
46 c.1562A > T p.E521V ○
50 c.1669A > T p.I557F
51 c.1726G > A† p.G576S ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○
52 c.1798C > T p.R600C ○
53 c.1857C > G p.S619R ○
55 c.1935C > A p.D645E ○
56 c.2003A > G p.Y668C
58 c.2055C > G p.Y685*
59 c.2065G > A† p.E689K ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○
62 c.2173C > T p.R725W
64 c.2238G > C p.W746C ○
71 c.2560C > T p.R854*
72 c.2647-7G > A – ○ ○ ○ ○
GAA activity (pmol/h/disk) DBS 1.8  < 1.0 1.7  < 1.0 2.9  < 1.0 2.5 1.3 2.0  < 1.0 3.2  < 1.0 1.7  < 1.0 2.9  < 1.0  < 1.0  < 1.0 1.8 3.6 1.3  < 1.0 2.6  < 1.0 1.4  < 1.0 1.7 1.3  < 1.0 3.9‡ 2.4 2.2 3.1 1.3  < 1.0  < 1.0 1.1 1.7 1.3 3.1
fibroblast 5.4 18.7 6.1 ND ND 4.9 ND ND ND ND ND ND 8.8 ND ND ND 4.2 7.8 ND 2.9 9.6 23.4 ND 4.4 ND 12.6 8.3 7.7 8.7 ND ND ND ND 4.7 6.5 6 5.3 27 ND ND
Diagnosis Carrier or potential carrier (DBS GAA range: < 1.0–3.6)
Variant No Nucleotide change Amino acid change Subject ID
5 12 23 24 26 40 56 58 59 63 71 73 79 88 96 101 109 113 124 134 139 142 143 106 8 93 87 84 127 131 133 130 140
2 c.317G > A p.R106H ○
4 c.439G > A p.G147S
5 c.503G > C p.R168P
6 c.538_542delCACTT p.H180Hfs*7 ○
7 c.546G > T p.T182 = 
8 c.546 + 5G > T –
14 c.547-27A > G – ○
21 c.752C > T p.S251L ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ● ●
22 c.761C > T p.S254L
23 c.796C > T p.P266S
28 c.1082 C > A p.P361Q
29 c.1124 G > A p.R375H
31 c.1170delC p.N390Kfs*2
32 c.1190C > T p.P397L
35 c.1244C > T p.T415M ○
36 c.1309C > T p.R437C
37 c.1316 T > A p.M439K
43 c.1494G > A p.W498*
46 c.1562A > T p.E521V
50 c.1669A > T p.I557F ○
51 c.1726G > A† p.G576S ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○
52 c.1798C > T p.R600C ○
53 c.1857C > G p.S619R ○
55 c.1935C > A p.D645E
56 c.2003A > G p.Y668C ○
58 c.2055C > G p.Y685*
59 c.2065G > A† p.E689K ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ○ ● ○ ○ ○
62 c.2173C > T p.R725W ○
64 c.2238G > C p.W746C
71 c.2560C > T p.R854* ○
72 c.2647-7G > A – ○
GAA activity (pmol/h/disk) DBS  < 1.0 1.1  < 1.0  < 1.0 2.1 1.3  < 1.0  < 1.0  < 1.0 1.3  < 1.0  < 1.0 1.3  < 1.0  < 1.0  < 1.0  < 1.0  < 1.0  < 1.0 2.5 2.1 2.0 1.7  < 1.0 2.0  < 1.0  < 1.0  < 1.0  < 1.0 3.2  < 1.0 1.9 1.0
Fibroblast 10 ND ND ND 35.1 3.7 3 8.1 7.8 ND ND 7.6 ND 9.6 ND ND ND ND ND ND ND ND ND 14.5 38 ND 5.4 3.0 0.9 ND ND ND ND
Diagnosis Carrier or potential carrier (DBS GAA range: < 1.0–3.6) Potential LOPD (DBS GAA range: < 1.0–3.2) IOPD

DBS GAA control range: 6.6– > 205

ND, not done; †, pseudodegiciency alleles; ‡, assayed by the Ba/Zn method

●, Homozygote; ○, Heterozygote; LOPD, late-onset Pompe disease; IOPD, infantile-onset Pompe disease