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

Table 2

Summary of PINK1 gene exonic variations detected in this study.

Nucleotide change	Protein change	Position	Domain	Homozygous 𝑁^a	Heterozygous 𝑁^b	Frequency 𝑁^c (%)	Pathogenicity
c.1018G > A	p.A340T	Exon 5	Kinase	—	7	7 (5.3)	Polymorphism
c.1173T > C	p.D391D	Exon 6	Kinase	—	1	1 (0.7)	Silent mutation
c.1426G > A	p.E476K	Exon 7	Kinase	—	2	2 (1.5)	Probably nonpathogenic
c.1562A > C	p.N521T	Exon 8	C-term	8	58	66 (50)	Polymorphism

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.