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

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

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
  1. Chr Chromosome number
  2. 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