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Overview of included studies for PARK-LRRK2:
Click here for summary of patients' characteristics
Click here for summary of in vitro effect of mutations on LRRK2 kinase pathway activity
Click here to show world map of all countries
Filter for
all included patients
index patients only
AAO < 50 (adjustable)
AAO >= 50 (adjustable)
females only
males only
homozygous only
heterozygous only
compound heterozygous only
homozygous and compound heterozygous
carrying
pathogenic variant
likely pathogenic variant
variant of uncertain significance
c.1004A>G
c.1132C>T
c.1163T>C
c.1240G>A
c.1256C>T
c.1310T>C
c.1312T>C
c.1375G>T
c.1382G>T
c.1421A>G
c.158A>G
c.1630A>G
c.1735A>G
c.1829T>C
c.1847A>G
c.1898C>T
c.1982C>T
c.2025A>G
c.2165G>A
c.2170A>G
c.2200G>A
c.2216A>G
c.2291G>A
c.2299C>T
c.2300G>A
c.2314C>T
c.2327C>T
c.2352C>A
c.2356A>T
c.2375G>A
c.2378G>T
c.2480C>T
c.2500+5delGTAA
c.2531T>A
c.2653A>T
c.2697A>C
c.2769G>C
c.2789A>G
c.2821G>T
c.2831A>T
c.2843G>A
c.2873C>T
c.28G>A
c.2915A>G
c.2917A>G
c.2918G>A
c.2942G>A
c.299T>C
c.3020G>C
c.3056A>G
c.3200G>A
c.3287C>G
c.3342A>G
c.3364A>G
c.3382C>A
c.3451G>A
c.3455G>T
c.3477T>G
c.3494T>C
c.3542C>A
c.3574A>G
c.3576T>G
c.3643G>A
c.3647A>G
c.3683G>C
c.3812C>T
c.3960G>T
c.3974G>A
c.4001G>A
c.4017T>G
c.4018G>A
c.4057C>A
c.4106T>C
c.4117G>A
c.4165G>A
c.4192C>T
c.4194T>G
c.4205A>G
c.4215T>A
c.4280A>G
c.4306T>C
c.4309A>C
c.4309A>G
c.4310A>G
c.4317+1G>C
c.4318G>C
c.4321C>A
c.4321C>G
c.4321C>T
c.4322G>A
c.4324G>C
c.4334C>G
c.4337C>T
c.4339G>A
c.4348G>A
c.4351G>A
c.4391C>G
c.4402A>G
c.4439C>T
c.4441G>A
c.4448G>A
c.4471_4473delACC
c.4474G>A
c.4501C>T
c.4536+3A>G
c.4559G>C
c.458T>G
c.4621G>A
c.4642A>G
c.4654C>T
c.4765G>T
c.4827+6T>A
c.4827+78T>C
c.4827+79T>C
c.4838T>C
c.4859A>G
c.4862A>G
c.4863C>A
c.4864C>A
c.4865C>T
c.4867A>G
c.4876A>G
c.4879T>A
c.4880C>T
c.4882C>T
c.4934A>C
c.4943A>G
c.4946A>C
c.5031G>C
c.5096A>G
c.5098T>C
c.5136A>T
c.5174G>A
c.518A>G
c.5255C>G
c.5266G>T
c.5267A>G
c.5273A>C
c.5281A>C
c.5318-29G>T
c.5321G>A
c.5385G>C
c.5385G>T
c.5417C>T
c.5467C>A
c.5605A>G
c.5606T>C
c.5620G>T
c.5659G>A
c.5672G>C
c.5740C>A
c.574T>G
c.577G>A
c.5822G>A
c.5882A>G
c.5949-28A>T
c.5971A>G
c.6016T>C
c.6028G>A
c.6035T>C
c.6055G>A
c.6058A>C
c.6059T>C
c.6059T>G
c.6091A>T
c.6187_6191delCTCTA
c.632C>T
c.6398A>G
c.6415T>A
c.6503G>T
c.6523G>C
c.6566A>G
c.6707A>G
c.6752A>C
c.6880G>A
c.689A>G
c.6922A>G
c.6929C>T
c.6938A>G
c.6967A>T
c.7006A>G
c.7049G>T
c.7067C>T
c.713A>T
c.7153G>A
c.7168G>A
c.7169T>C
c.7224G>A
c.7267A>T
c.7300A>G
c.7315C>A
c.7388T>C
c.7390+178A>G
c.7481C>T
c.749A>G
c.7570A>G
c.763G>A
c.774A>T
c.856C>G
c.872T>C
c.917C>T
c.922T>A
c.935C>T
c.958A>T
Country
Algeria
Argentina
Australia
Austria
Belarus
Belgium
Brazil
Canada
Chile
China
Colombia
Costa Rica
Cuba
Czech Republic
Denmark
Ecuador
Egypt
Estonia
Faroe Islands
Finland
France
Germany
Greece
Guatemala
Hungary
India
Iran
Ireland
Israel
Italy
Japan
Kazakhstan
Libya
Lithuania
Malaysia
Malta
Mexico
Mixed/Other
Morocco
Netherlands
Norway
Peru
Poland
Portugal
Puerto Rico
Russia
Serbia
Singapore
Slovakia
South Africa
South Korea
Spain
Sweden
Taiwan
Tunisia
Turkey
United Kingdom
United States
Uruguay
Zambia
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Landoulsi, 2023
Mutational screen
17
n.a.
n.a.
n.a.
Ala1151Thr
: het
Gly2019Ser
: het
Gln923His
+
Gly2019Ser
: comp. het.
Leu286Val
: het
Asn335Ser
: het
Arg1325Gln
: het
Arg1441Cys
: het
Arg1441Ser
: het
Arg1941His
: het
Ser1159Arg
: het
Ser764Asn
: het
Ser973Asn
: het
Val2390Ala
: het
Show more (+10)
Salemi, 2023
Mutational screen
6
C
50%
66(+/-20)
Gly2019Ser
: het
Gln1823Lys
: het
Thr2310Met
: het
Thr2356Ile
: het
Arg1067Gln
: het
Tyr2189Cys
: het
Show more (+3)
Balestrino, 2023
Mutational screen
1
n.a.
100%
60
Gly2019Ser
: het
Wallings, 2023
Case report/Case series
3
n.a.
100%
n.a.
Arg1441Cys
: het
Tyr1699Cys
: het
Hajianfar, 2023
Other/Mixed
1
n.a.
n.a.
n.a.
Arg1441Cys
: het
Usenko, 2023
Associated study
5
n.a.
n.a.
n.a.
Ala419Val
: het
Cohen, 2023
Associated study
13
n.a.
n.a.
n.a.
Gly2019Ser
: het
Smaili, 2023
Mutational screen
7
n.a.
71%
51(+/-7)
Lys739Arg
: het
Glu1492Lys
: hom
Ile675Met
: comp. het.
Gln923His
: het
Thr251Ile
+
Pro587Leu
: comp. het.
Tyr2189Cys
: het
His613Tyr
: het
Thr1319Ala
: het
Tyr2189Cys
: comp. het.
Show more (+6)
Sun, 2023
Other/Mixed
3
A
33%
56(+/-8)
Asn1437Asp
: het
Sun, 2023
Mutational screen
2
A
n.a.
n.a.
Asn1437Asp
: het
Arg1441Cys
: het
1
2
3
4
5
6
7
8
9
10
…
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© University of Lübeck. Last updated on
Feb. 11, 2020. Version: 3.5.91
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