Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson's Disease

Table 1

Summary of PARK2 gene exonic variations detected in this study.

Nucleotide change	Protein change	Position	Domain	Homozygous 𝑁^a	Heterozygous 𝑁^b	Frequency 𝑁^c (%)	Pathogenicity
c.111G > A	p.P37P	Exon 2	UBL	—	2	2 (1.5)	Silent mutation, polymorphism
c.245C > A	p.A82E	Exon 3	—	—	1	1 (0.7)	Probably nonpathogenic
c.434G > A	p.S145N	Exon 4	—	—	1	1 (0.7)	Probably pathogenic
c.500G > A	p.S167N	Exon 4	—	—	17	17 (12.9)	Polymorphism
c.659A > G	p.K220R	Exon 6	—	—	1	1 (0.7)	Novel, probably nonpathogenic
c.719C > T	p.T240M	Exon 6	RING1	—	1	1 (0.7)	Pathogenic
c.783A > G	p.L261L	Exon 7	RING1	—	14	14 (10.6)	Silent mutation, polymorphism
c.1016C > T	p.A339V	Exon 9	IBR	—	1	1 (0.7)	Novel, probably nonpathogenic
c.1021C > T	p.L341L	Exon 9	IBR	—	2	2 (1.5)	Novel, silent mutation
c.1138G > C	p.V380L	Exon 10	—	4	29	33 (25)	Polymorphism
c.1180G > A	p.D394N	Exon 11	—	—	9	9 (6.8)	Polymorphism
c.1310C > T	p.P437L	Exon 12	RING2	—	2	2 (1.5)	Probably pathogenic

aNumber of homozygous carriers identified in PD cases.
^bNumber of heterozygous carriers identified in PD cases.
^cFrequency represents number of variants identified in PD cases.