. Author manuscript; available in PMC: 2016 Jan 15.

Published in final edited form as: JAMA Neurol. 2014 Oct;71(10):1228–1236. doi: 10.1001/jamaneurol.2014.2011

Table 2.

Rare, Deleterious Variants Identified From the Proband Using Exome Sequencing

Gene	Variant Type	DNA	Amino Acid Change	Genotype	dbSNP No. or Chromosome Position^a	SIFT Score	Allele Frequency^b
ABCC2	nsSNV	c.T2009C	p.I670T	Homozygous	rs17222632	0	0.0092
APOE	fs del	c.291delG	p.E97fs	Homozygous	chr19: 45411844	NA	NA
BUD13	nsSNV	c.C1223T	p.P408L	Heterozygous	rs61730763	0.03	0.04
FUT2	fs del	c.811delC	p.P271fs	Heterozygous	rs1799761	NA	NA
LIPC	nsSNV	c.G409A	p.G137R	Heterozygous	rs199787635	0	0
LRP2	nsSNV	c.T1817C	p.V606A	Heterozygous	rs116332504	0	0.03
MCEE	nsSNV	c.G428A	p.R143H	Heterozygous	rs115175255	0	0.05
PCCA	nsSNV	c.G925A	p.V309M	Heterozygous	chr13: 100925538	0	NA
PLB1	nsSNV	c.A2402T	p.N801I	Heterozygous	rs115240682	0.01	0.04

Abbreviations: fs del, frameshift deletion; NA, not applicable; nsSNV, nonsynonymous single-nucleotide variant; SIFT, Sorting Intolerant From Tolerant.

The chromosome position of the variant is given if the reference single-nucleotide polymorphism (rs) identification number is unavailable.

Allele frequency of the variant based on the 1000 Genomes Project May 2011 release.²⁹