Skip to main content

Table 2 Summary of the variants found in the European-American case-control sample

From: Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson’s Disease

Gene AA change Cases (478) MAF Controls (337) MAF p value Clinical interpretation PD mutation database Notes
LRRK2 R50H 0 0 1 0.001 n.s. Unknown Autosomal Dominant
R521G 0 0 1 0.001 n.s. Unknown
R793M 0 0 2 0.003 0.09 Pathogenic nature unclear
S885C 1 0.001 0 0 n.s. Novel
L119P 2 0.002 1 0.001 n.s. Non-pathogenic
P1262A 1 0.001 0 0 n.s. Non-pathogenic
I1371V 2 0.002 0 0 n.s. Pathogenic nature unclear
V1389I 1 0.001 0 0 n.s. Unknown
V1450I 0 0 1 0.001 n.s. Not pathogenic
R1514Q 7 0.007 4 0.006 n.s. Not pathogenic
M1646T 21 0.022 9 0.013 n.s. Not pathogenic/Risk
L1795F 1 0.001 0 0 n.s. Pathogenic nature unclear
D1887N 1 0.001 0 0 n.s. Novel
G2019S 8 0.008 0 0 0.02 Pathogenic
N2081D 17 0.018 15 0.022 n.s. Non-pathogenic
Y2189C 0 0 1 0.001 n.s. Pathogenic nature unclear
A2461V 0 0 1 0.001 n.s. Unknown
Total   62   36     
DJ-1 A179T 1 0.0010 0 0 n.s. Pathogenic nature unclear Autosomal Recessive
Total   1   0     
PARKIN D53X 1 0.001 0 0 n.s. Pathogenic Autosomal Recessive
R65C 1 0.001 1 0.001 n.s. Pathogenic nature unclear
A82E 1 0.001 1 0.001 n.s. Pathogenic nature unclear
R275W 2 0.002 2 0.003 n.s. Pathogenic nature unclear
E310D 0 0 1 0.001 n.s. Pathogenic nature unclear
R402C 5 0.005 1 0.001 n.s. Pathogenic nature unclear
R402H 0 0 1 0.001 n.s. Unknown
P437L 3 0.003 2 0.003 n.s. Pathogenic nature unclear
Total   13   9     
PINK1 R147C 0 0 1 0.001 n.s. Novel Autosomal Recessive
R207Q 1 0.001 0 0 n.s. Unknown
M318L 0 0 1 0.001 n.s. Pathogenic nature unclear
A339S 2 0.002 1 0.001 n.s. Pathogenic nature unclear
N367S 2 0.002 0 0 n.s. Pathogenic nature unclear
G411S 1 0.001 0 0 n.s. Pathogenic nature unclear
R492X 0 0 1 0.001 n.s. Pathogenic
Total   6   4     
GBAc R83C 2 0.002 0 0 n.s. Unknown PD GWAS Hit
H294Q 2 0.002 0 0 n.s. Pathogenic
T336S 1 0.001 0 0 n.s. Novel
E365K 19 0.020 11 0.02 n.s. Polymorphism, Risk PD
T408M 17 0.018 0 0 0.0005 Polymorphism
N409S 7 0.007 1 0.001 0.09 Pathogenic, Risk PD
E427K 1 0.001 0 0 n.s. Unknown
D448H 1 0.001 1 0.001 n.s. Pathogenica
L483P 7 0.007 2 0.003 n.s. Pathogenica, Risk PD
A495P 17 0.018 10 0.015 n.s. Pathogenicb
Total   74   25   0.001   
MAPT A152T 4 0.004 0 0 0.09 Risk AD, FTD PD GWAS Hit
S427F 0 0 2 0.003 0.09 Unknown
A495T 0 0 1 0.001 n.s. Non-pathogenic
A556T 1 0.001 0 0 n.s. Unknown
Total   5   3     
  1. Gene: official Symbol provide by HGNC; AA Change: amino acid change resulting from the observed variant; MAF: Minor allele frequency; Clinical Interpretation: Clinical interpretation is based on PD mutation database [22] and published papers. aGBA variants found in pseudo gene. b Variant also known as p.A485P c Amino acid designations are based on the primary GBA translation product, including the 39-residue signal peptide