Amino-acid variation
|
Position
|
Protein domain
|
Main phenotype
|
Risk ethnicty
|
Neuropathology
|
Ref
|
---|
R1441C
|
Exon31
|
ROCc
|
PD
|
Middle European
|
Lewy bodies
|
[22]
|
SN neuronal loss
|
Neurofibrillary tangles
|
Ubiquitin staining
|
R1441G
|
Exon31
|
ROCc
|
PD
|
Caucasian (Basque Country) Italy
|
SN neuronal loss
|
[28]
|
Ubiquitin staining
|
R1441H
|
Exon31
|
ROCc
|
PD
|
NAb
|
Unknown
|
[23]
|
R1628P
|
Exon 34
|
CORc
|
PD
|
Chinese
|
Unknown
|
[24]
|
Y1699C
|
Exon 35
|
CORc
|
PD
|
NAb
|
Lewy bodies
|
[25]
|
SN neuronal loss
|
Neurofibrillary tangles(Stage IIa)
|
Ubiquitin staining
|
G2019S
|
Exon 41
|
Kinase
|
PD
|
In virtually all the populations especially North African
|
Lewy bodies
|
[30, 32, 43]
|
SN neuronal loss
|
Neurofibrillary tangles (Stage Va)
|
Ubiquitin staining
|
I2020T
|
Exon 41
|
Kinase
|
PD
|
NAb
|
Lewy bodies
|
[29]
|
SN neuronal loss
|
R2385R
|
Exon 48
|
WD40
|
PD
|
East Asian
|
Unknown
|
[13]
|
- aStage refers to the highest reported Braak stage.
- bNA, Not applicable.
- cRoc: Ras of complex (GTPase). COR: C-terminal of Ras.