The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease

Table 2 Candidate variants identified by whole exome sequencing

Gene	Position (hg19)	Transcript	dbSNP	Variation		Allele frequency (%)^a	CADD score	Segregation^b
Gene	Position (hg19)	Transcript	dbSNP	Nucleotide	Amino acid	Allele frequency (%)^a	CADD score	Segregation^b
USP1	Chr1:62910424	NM_001017415.1	─	c.573G > A	p.M191I	0	27.1	5/6
MVP	Chr16:29859222	NM_005115.4	rs151174471	c.2594G > T	p.G865V	0.07	7.19	5/6
RAB39B	ChrX:154490156	NM_171998.2	─	c.574G > A	p.G192R	0	29.4	6/6

CADD Combined Annotation Dependent Depletion
^aFrequency among chromosomes successfully sequenced for USP1 (n = 111,418), MVP (n = 121,248), and RAB39B (n = 87,725) in the Exome Aggregation Consortium database (http://exac.broadinstitute.org)
^bNumber of affected individuals with the variant/total number of affected individuals with genotypes in the pedigree

ISSN: 1750-1326