Table 2.

GAA mutations identified in CRIM-negative infantile Pompe disease cohort

Group	Patient	Allele 1 cDNA change	Allele 2 cDNA change	Allele 1 amino acid change	Allele 2 amino acid change	Allele 1 mutation type	Allele 2 mutation type	Allele 1 mutation effect†	Allele 2 mutation effect†
HSAT	1	c.722_723delTT	c.1687C>T	p.Phe241CysfsX88	p.Gln563X	Frameshift	Nonsense	very severe	very severe
	2	c.1687C>T	c.1687C>T	p.Gln563X	p.Gln563X	Nonsense	Nonsense	very severe	very severe
	3	c.148_859-11del	c.685_686insCGGC	p.Glu50HisfsX37	p.Arg229ProfsX102	Frameshift	Frameshift	very severe	very severe
	4	c.2560C>T	c.2560C>T	p.Arg854X	p.Arg854X	Nonsense	Nonsense	very severe	very severe
	5	c.1075G>T	c.1075G>T	p.Gly359X	p.Gly359X	Nonsense	Nonsense	unknown	unknown
	6	c.2560C>T	c.2560C>T	p.Arg854X	p.Arg854X	Nonsense	Nonsense	very severe	very severe
	7	c.2560C>T	c.2560C>T	p.Arg854X	p.Arg854X	Nonsense	Nonsense	very severe	very severe
	8	c.722_723delTT	c.1754 +1G>A	p.Phe241CysfsX88	Splice Site	Frameshift	Splice Site	very severe	unknown
	9	c.1496G>A	c.1496G>A	p.Trp499X	p.Trp499X	Nonsense	Nonsense	very severe	very severe
	10	c.1654delC	c.2560C>T	p.Leu552SerfsX26	p.Arg854X	Frameshift	Nonsense	unknown	very severe
	11	c.2560C>T	c.2560C>T	p.Arg854X	p.Arg854X	Nonsense	Nonsense	very severe	very severe
	12	c.1826dupA	c.2238G>A	p.Tyr609X	p.Trp746X	Nonsense	Nonsense	very severe	very severe
	13	c.2222_*549+214delins13	c.2222_*549+214delins13	p.Asp741AlafsX28	p.Asp741AlafsX28	Frameshift	Frameshift	unknown	unknown
SIT	14	c.546+2_546+5delTGGG	c.1650dupG	Splice Site	p.Thr551AspfsX85	Splice Site	Frameshift	very severe	unknown
	15	c.1209delC	c.1209delC	p.Asn403LysfsX37	p.Asn403LysfsX37	Frameshift	Frameshift	unknown	unknown
	16	c.2560C>T	c.2560C>T	p.Arg854X	p.Arg854X	Nonsense	Nonsense	very severe	very severe
	17	c.1A>G	c.1A>G	p.Met1?	p.Met1?	Initiator codon	Initiator codon	unknown	unknown
LT	18	c.546+2_546+5delTGGG	c.1650dupG	Splice Site	p.Thr551AspfsX85	Splice Site	Frameshift	very severe	unknown
	19	c.2495_2496delCA	c.2495_2496delCA	p.Thr832AsnfsX51	p.Thr832AsnfsX51	Frameshift	Frameshift	very severe	very severe
	20	c.1637-2A>G	c.1637-2A>G	Splice Site	Splice Site	Splice Site	Splice Site	very severe	very severe

^†Source: Erasmus MC Rotterdam; http://www.pompecenter.nl

HSAT, high sustained antibody titers; LT, low titers; SIT, sustained intermediate titers