Signs and symptoms
Genes
Methods
Disclaimer
About us
Publications
Contact us
Patients
Users
Database
Login
Overview of included studies for PARK-PINK1:
Click here for summary of patients' characteristics
Click here for summary of genetic findings
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
definitely pathogenic mutations
probably pathogenic mutations
possibly pathogenic mutations
c.(1251+1_1252-1)_(1488+1_1489-1)del
c.(387+1_388-1)_(675+1_676-1)del
c.(387+1_388-1)_(675+1_676-1)dup
c.(387+1_388-1)_(959+1_960-1)del
c.(776+1_777-1)_(1123+1_1124-1)del
c.(776+1_777-1)_(959+1_960-1)del
c.(776+1_777-1)_(959+1_960-1)dup
c.(959+1_960-1)_(1123+1_1124-1)del
c.(959+1_960-1)_(1123+1_1124-1)dup
c.(?_-94)_(820_?)del
c.(?_-94)_(387+1_388-1)del
c.1015G>A
c.1040T>C
c.1079A>G
c.1100A>G
c.1103T>A
c.1106T>C
c.1123+1247_881del
c.1157G>C
c.1162T>C
c.1225G>A
c.1226G>T
c.1247C>G
c.1247C>T
c.1250A>G
c.1252-2_1272del
c.1252-52_1488+6del
c.1255T>C
c.1309T>C
c.1311G>A
c.1329delC
c.1366C>T
c.1391G>A
c.1466T>C
c.1474C>T
c.1488+1G>A
c.1557delG
c.1560delG
c.1570_1573dupTTAG
c.1602_1603insCAA
c.1617G>C
c.1647_1650delTGTG
c.218C>T
c.230T>C
c.270G>A
c.273delC
c.275G>T
c.373T>G
c.377A>C
c.454C>T
c.502G>C
c.509T>G
c.650C>A
c.70_101del
c.715C>T
c.718G>A
c.731C>G
c.736C>T
c.745T>G
c.774C>A
c.777-1614_853delins88
c.799C>T
c.813C>A
c.836G>A
c.852C>T
c.889delG
c.926G>A
c.92T>A
c.938C>T
c.949G>A
Country
Algeria
Brazil
Canada
China
Czech Republic
France
Germany
Greece
India
Iran
Israel
Italy
Japan
Jordan
Mexico
Micronesia
Morocco
Norway
Philippines
Poland
Saudi Arabia
South Africa
South Korea
Spain
Sri Lanka
Sudan
Sweden
Taiwan
Turkey
United Kingdom
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Ben El Haj, 2016
Family study
1
n.a.
100%
54
p.Leu539Phe
: hom
Halder, 2015
Mutational screen
1
n.a.
100%
31
p.Gln267*
: hom
Al-Mubarak, 2015
Mutational screen
3
n.a.
67%
50(+/-17)
p.Thr313Met
: hom
p.Gly409Arg
: hom
Steele, 2015
Mutational screen
3
O
33%
50(+/-17)
p.Leu347Pro
: hom
Siuda, 2014
Family study
2
C
50%
22(+/-8)
p.Gln456*
: hom
Monroy-Jaramillo, 2014
Mutational screen
9
O
67%
30(+/-8)
c.(?_-94)_(387+1_388-1)del
: hom
c.(776+1_777-1)_(1123+1_1124-1)del
+
c.(387+1_388-1)_(675+1_676-1)del
: comp. het.
c.(959+1_960-1)_(1123+1_1124-1)dup
+
c.(387+1_388-1)_(675+1_676-1)dup
: comp. het.
p.Tyr444Metfs*39
: hom
p.Cys92Alafs*15
: hom
Show more (+2)
Koziorowski, 2013
Mutational screen
1
C
0%
n.a.
p.Ile368Asn
: hom
Darvish, 2013
Mutational screen
7
O
n.a.
25
c.(387+1_388-1)_(675+1_676-1)del
+
c.(387+1_388-1)_(959+1_960-1)del
: comp. het.
c.(776+1_777-1)_(959+1_960-1)del
: hom
c.(959+1_960-1)_(1123+1_1124-1)del
: hom
Kilarski, 2012
Mutational screen
1
A
0%
29
p.Leu347Pro
: hom
Lohmann, 2012
Other/Mixed
3
n.a.
100%
40(+/-10)
p.Leu31*
: hom
p.Pro416Leu
: hom
« First page
‹ Previous
1
2
3
4
5
6
Next ›
Last page »
Show all studies on one page
© University of Lübeck. Last updated on
Dec. 2, 2020. Version: 3.5.95
MDSGene works best with JavaScript enabled. Please follow
these instructions
to activate JavaScript in your web browser.
MDSGene works best with JavaScript enabled. Please follow
these instructions
to activate JavaScript in your web browser.