Table 1.

Mutation spectrum of NCSTN, PSEN1, PSENEN and POGLUT1 in HS patients

ID	Mutation category	Nucleotide change	Amino acid change	TM	Ethnic origin	Reference
NCSTN
1	Missense	c. 223G>A	p.V75I	Yes	Chinese	(13)
2		c.553G>A	p.D185N	Yes	Caucasian	(9)
3		c.632C>G	p.P211R	Yes	Chinese	(14)
4		c.647A>C	p.Q216P	Yes	Chinese	(13)
5		c.944C>T	p.A315V	Yes	Chinese	(15)
6		c.1229C>T	p.A410V	Yes	Chinese	(16)
7	Nonsense	c.349C>T	p.R117X	No	Chinese, Caucasian, African	(5,16,17)
8		c.477C>A	p.C159X	No	Chinese	(18)
9		c.497C>A	p.S166X	No	Chinese	(19)
10		c.1258C>T	p.Q420X	No	Chinese	(54)
11		c. 1300C>T	p.R434X	No	Caucasian	(20)
12		c. 1695T>G	p.Y565X	No	Chinese	(14)
13		c.1702C>T	p.Q568X	No	Caucasian, Japanese	(55)
14		c.1799delTG	p.L600X	No	Indian	(21)
15	Frameshift	c.210_211delAG	p.T70fsX18	No	Chinese	(10)
16		c.487delC	p.Q163SfsX39	No	Chinese	(5)
17		c.687insCC	p.C230PfsX31	No	Indian	(21)
18		c.1752delG	p.E584DfsX44	No	Chinese	(5)
19		c.1768A>G	p.590AfsX3	No	Caucasian	(20)
20	Splice site	c.582+1delG	p.F145fs_X54	No	Japanese	(55)
21		c.996+7G>A	p.L282_G332del	Yes	Caucasian	(9)
22		c.1101+1G>A	p.E333_Q367del	Yes	Caucasian	(22)
23		c.1101+10A>G	p.E333_Q367del	Yes	African	(9)
24		c.1352+1G>A	p.Q393fs_X9	No	Chinese	(10)
25		c.1551+1G>A	p.A486_T517del	No	Chinese	(5)
PSEN1
26	Frameshift	c.725delC	P242LfsX11		Chinese	(5)
PSENEN
27	Frameshift	c.66delG	p.F23LfsX46		Chinese	(5,23)
28		c.66_67insG	p.F23VfsX98		Caucasian	(9)
29		c.279delC	p.P94SfsX51		Chinese	(5)
30	Nonsense	c.168T>G	p.Y56-101Pdel		Caucasian	(24)
31	Splicing	c.167-2A>G	p.G55-101Pdel		Chinese	(25)
32	Missense	c.194T>G	p.L65R		Chinese	(25)
POGLUT1
33	Nonsense	c.814C>T	p.R272*		Caucasian	(26)
34	Splicing	c.430-1G>A	p.K246_392Ldel		Caucasian	(6)