Exome sequencing in an Italian family with Alzheimer’s disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H

Table 1 Variants exclusive of family members and satisfying the filtering criteria

Chr	Position	Gene	Variant	Amino acid change	(%)	dbSNP ID	Found in (family code)
chr8	144,589,984	ZC3H3	c.1646 C > T	p.Ser549 Leu	0.5%	rs 149,025,999	PR 1, PR 2, PR 3, PR 4, PR 5, PR 7, PR 9
chr9	738,341	KANK1	c.3391 G > C	p.Ala1131Pro	0.1%	rs 180,816,986	PR1, PR3, PR5
chr17	27,286,417	SEZ6	c.1844 G > A	p.Arg615 His	0.01%	rs 371,753,097	PR1, PR2, PR5
chr20	57,598,807	TUBB1	c.326 G > A	p.Gly109 Glu	0.2%	rs 41,303,899	PR1, PR2, PR3, PR5
chr22	24,717,509	SPECC1L	c.562 C > T	p.Leu188 Phe	0.9%	rs 56,168,869	PR1, PR2, PR3, PR5, PR9

Chr Chromosome number
Percentage population frequency refers to data of the European population frequency derived from the 1000 Genomes Project at the time the manuscript was written. See the “Methods” section of text for further details. Chromosome positions refer to the hg19 assembly. The gene of interest (SEZ6) is highlighted in bold, and members affected with AD are Italic

ISSN: 1758-9193