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Table 2 Variants found

From: Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2

Sample Gene Nucleotide change Amino acid change Copy variation Exon Zygosity AAO
S1 PRKN 154delA N52fsX80 N/A 2 Homo 30
S2 PRKN 154delA N52fsX80 N/A 2 Homo 35
S3 PRKN 154delA N52fsX80 N/A 2 Homo 21
S4 PRKN G1183T E395X* N/A 11 Het 53
  PRKN N/A N/A Duplication 9 Het  
S5 PRKN C719T# T240M N/A 6 Het 55
S6 PRKN N/A# N/A Duplication 8 Het 33
S7 PRKN N/A N/A Duplication 9 Het 38
  LRRK2 G6055A G2019S N/A 41 Het  
S8 PRKN N/A# N/A Deletion 8 – 11 Het 32
S10 PRKN N/A# N/A Deletion 2 Het 35
  PRKN N/A# N/A Duplication 5 Het  
S12 LRRK2 G6055A G2019S N/A 41 Het 41
  1. Homo: Homozygosity; Het: heterozygosity; * previously undescribed mutation; # Variants of unknown significance e.g pathogenicity not confirmed herein. AAO: Age at onset.