NDDVD - Neurodegenerative Diseases Variation Database
PARK2 (parkin RBR E3 ubiquitin protein ligase)
LOVD v.3.0 Build 29 [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Y Yang
View all genes
View PARK2 gene homepage
View graphs about the PARK2 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene PARK2
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene PARK2
View all variants in gene PARK2
Full data view for gene PARK2
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene PARK2
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene PARK2
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene PARK2
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Full data view for gene PARK2
The variants shown are described using the NM_004562.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA)
: Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
RNA change
: Description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: Description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Variant/VariO/DNA
: VariO of DNA
Variant/VariO/protein
: VariO of protein
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
DNA change (genomic) (hg19)
: Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup
Reference
: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID
: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
Frequency
: Frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).
Template
: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
All options:
DNA
RNA = RNA (cDNA)
Protein
? = unknown
Technique
: Technique(s) used to identify the sequence variant.
All options:
? = Unknown
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CSCE = Conformation Sensitive Capillary Electrophoresis
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG = Next-Generation Sequencing
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SEQ = SEQuencing
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting
Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Ethnic origin
: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Remarks
: Remarks about the individual.
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
153 entries on 2 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
Next
Last »
Effect
Exon
DNA change (cDNA)
RNA change
Protein
Variant/VariO/DNA
Variant/VariO/protein
Allele
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Template
Technique
Disease
Reference
Ethnic origin
Remarks
Panel size
Owner
./.
1
c.-53C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
Unknown
g.163148753G>A
Kay DM, 2007
PARK2_000077
-
?
?
PD
-
-
-
1
Y Yang
./.
1
c.-44C>A
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0316 transversion
-
Unknown
g.163148744G>T
Kay DM, 2007
PARK2_000134
-
?
?
PD
-
-
-
1
Y Yang
./.
1
c.-39G>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0316 transversion
-
Unknown
g.163148739C>A
Brüggemann N, 2009
PARK2_000133
-
?
?
PD
-
-
-
1
Y Yang
./.
1
c.-21G>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0316 transversion
-
Unknown
g.163148721C>A
Hedrich K, 2002;Clark LN, 2006;Wang Y, 2008;Brüggemann N, 2009
PARK2_000132
-
?
?
PD
-
-
-
1
Y Yang
./.
1
c.-6G>C
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0316 transversion
-
Unknown
g.163148706C>G
Varrone A, 2004
PARK2_000131
-
?
?
PD
-
-
-
1
Y Yang
./.
1
c.1A>C
r.?
p.?
VariO:0136 DNA substitution; VariO:0316 transversion
-
Unknown
g.163148700T>G
Rawal N, 2003
PARK2_000130
-
?
?
PD
-
-
-
1
Y Yang
./.
1i
c.7+1G>A
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
Unknown
g.163148693C>T
Illarioshkin SN, 2003;Chien HF, 2006
PARK2_000129
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.29G>A
r.(?)
p.(Ser10Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162864484C>T
Nuytemans K, 2009
PARK2_000128
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.34G>C
r.(?)
p.(Gly12Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162864479C>G
Mellick GD, 2009
PARK2_000127
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.43G>A
r.(?)
p.(Val15Met)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162864470C>T
Mu?oz E, 2002
PARK2_000136
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.48G>A
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
Unknown
g.162864465C>T
Okubadejo N, 2008
PARK2_000135
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.52G>A
r.(?)
p.(Asp18Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162864461C>T
Wang Y, 2008
PARK2_000057
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.92C>A
r.(?)
p.(Ala31Asp)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162864421G>T
Chaudhary S, 2006
PARK2_000055
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.97C>T
r.(?)
p.(Arg33*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
Unknown
g.162864416G>A
Maruyama M, 2000
PARK2_000056
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.98G>A
r.(?)
p.(Arg33Gln)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162864415C>T
Hertz JM, 2006;Macedo MG, 2009;Pankratz N, 2009
PARK2_000060
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.101A>G
r.(?)
p.(Gln34Arg)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162864412T>C
Chaudhary S, 2006;Biswas A, 2006;Myhre R, 2008;Bardien S, 2009
PARK2_000059
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.101delA
r.(?)
p.(Gln34Argfs*10)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
Unknown
g.162864412delT
Nisipeanu P, 2001;Inzelberg R, 2003;Moro E, 2008
PARK2_000061
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.101_102delAG
r.(?)
p.(Gln34Argfs*5)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
Unknown
g.162864411_162864412delCT
Abbas N, 1999;Hedrich K, 2002;Foroud T, 2003;Gouider-Khouja N, 2003;Illarioshkin SN, 2003;Scherfler C, 2004;Romito LM, 2005;Lesage S, 2008;Guo JF, 2008;Lohmann E, 2009;Brooks J, 2009;Brüggemann N, 2009;Koziorowski D, 2009;Pankratz N, 2009;Guo JF, 2010
PARK2_000058
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.110C>T
r.(?)
p.(Pro37Leu)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.162864403G>A
Kann M, 2002;Nuytemans K, 2009
PARK2_000049
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.111G>A
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
Unknown
g.162864402C>T
Okubadejo N, 2008
PARK2_000050
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.118C>T
r.(?)
p.(Gln40*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
Unknown
g.162864395G>A
Choi JM, 2008
PARK2_000097
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.124C>T
r.(?)
p.(Arg42Cys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.162864389G>A
Chaudhary S, 2006;Biswas A, 2006;Brooks JA, 2009
PARK2_000096
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.125G>A
r.(?)
p.(Arg42His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162864388C>T
Madegowda RH, 2005;Biswas A, 2006
PARK2_000099
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.125G>C
r.(?)
p.(Arg42Pro)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162864388C>G
Terreni L, 2001;Hedrich K, 2002;Bertoli-Avella AM, 2005;Clark LN, 2006;Pellecchia MT, 2007;Wang Y, 2008;Sironi F, 2008;Macedo MG, 2009
PARK2_000098
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.136G>A
r.(?)
p.(Ala46Thr)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162864377C>T
Okubadejo N, 2008
PARK2_000100
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.156_157insT
r.(?)
p.(Asp53*)
VariO:0142 DNA insertion
VariO:0015 protein truncation
Unknown
g.162864356_162864357insA
Aguiar P de C, 2008;Barsottini OG, 2009
PARK2_000102
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.160T>C
r.(?)
p.(Trp54Arg)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.162864353A>G
CamRos ST, 2009
PARK2_000101
-
?
?
PD
-
-
-
1
Y Yang
./.
2
c.167T>A
r.(?)
p.(Val56Glu)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162864346A>T
Hoenicka J, 2002
PARK2_000093
-
?
?
PD
-
-
-
1
Y Yang
./.
2i
c.171+10C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
Unknown
g.162864332G>A
Bardien S, 2009
PARK2_000092
-
?
?
PD
-
-
-
1
Y Yang
./.
2i
c.171+25T>C
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
Unknown
g.162864317A>G
Padmaja MV1, Jayaraman M, Srinivasan AV, Srisailapathy CR, Ramesh A.(2012)
PARK2_000138
-
?
?
PD
Padmaja MV1, Jayaraman M, Srinivasan AV, Srisailapathy CR, Ramesh A.(2012)
India
-
1
Y Yang
./.
2i
c.171+25T>C
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
Unknown
g.162864317A>G
Bognar C1, Baldovic M, Benetin J, Kadasi L, Zatkova A.(2013)
PARK2_000138
-
?
?
PD
Bognar C1, Baldovic M, Benetin J, Kadasi L, Zatkova A.(2013)
-
-
1
Y Yang
./.
2i
c.171+25T>C
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
Unknown
g.162864317A>G
Ros R1, Ampuero I, García de Yébenes J.(2008)
PARK2_000138
-
?
?
PSP
Ros R1, Ampuero I, García de Yébenes J.(2008)
-
-
1
Y Yang
./.
3
c.220_221insGT
r.(?)
p.(Trp74Cysfs*8)
VariO:0142 DNA insertion
VariO:0023 amphigoric amino acid indel
Unknown
g.162683748_162683749insAC
Abbas N, 1999;Pineda-Trujillo N, 2001
PARK2_000069
-
?
?
PD
-
-
-
1
Y Yang
./.
3
c.235G>T
r.(?)
p.(Glu79*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
Unknown
g.162683734C>A
Foroud T, 2003;Pankratz N, 2009
PARK2_000070
-
?
?
PD
-
-
-
1
Y Yang
./.
3
c.245C>A
r.(?)
p.(Ala82Glu)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162683724G>T
Hedrich K, 2001;Varrone A, 2004;Kay DM, 2007;Lesage S, 2008;H?kansson A, 2008;Sironi F, 2008;Nuytemans K, 2009;Brooks J, 2009;Pankratz N, 2009
PARK2_000067
-
?
?
PD
-
-
-
1
Y Yang
./.
3
c.247A>G
r.(?)
p.(Thr83Ala)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162683722T>C
Pankratz N, 2009
PARK2_000068
-
?
?
PD
-
-
-
1
Y Yang
./.
3
c.300G>T
r.(?)
p.(Gln100His)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162683669C>A
Chen R, 2003
PARK2_000073
-
?
?
PD
-
-
-
1
Y Yang
./.
3
c.310C>T
r.(?)
p.(Arg104Trp)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.162683659G>A
Varrone A, 2004;Chaudhary S, 2006
PARK2_000074
-
?
?
PD
-
-
-
1
Y Yang
./.
3
c.337_376del40
r.(?)
p.(Pro113Thrfs*51)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
Unknown
g.162683593_162683632del40
Farrer M, 2001;Hedrich K, 2002;Nichols WC, 2002;Foroud T, 2003;Chen R, 2003;Scherfler C, 2004;WIy J, 2004;Poorkaj P, 2004;Hedrich K, 2004;Poorkaj P, 2005;Clark LN, 2006;Sun M, 2006;Wang Y, 2008;Brooks J, 2009;Pankratz N, 2009;Sammler EM, 2009
PARK2_000071
-
?
?
PD
-
-
-
1
Y Yang
./.
3
c.372C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
Unknown
g.162683597G>A
Chen R, 2003
PARK2_000072
-
?
?
PD
-
-
-
1
Y Yang
./.
3
c.397_399delCCA
r.(?)
p.(Pro133del)
VariO:0141 DNA deletion
VariO:0016 sequence retaining amino acid deletion
Unknown
g.162683570_162683572delTGG
Hedrich K, 2004
PARK2_000065
-
?
?
PD
-
-
-
1
Y Yang
./.
3
c.428A>G
r.(?)
p.(Tyr143Cys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162622269T>C
Biswas A, 2006
PARK2_000066
-
?
?
PD
-
-
-
1
Y Yang
./.
4
c.434G>A
r.(?)
p.(Ser145Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162622263C>T
Varrone A, 2004;Romito LM, 2005
PARK2_000052
-
?
?
PD
-
-
-
1
Y Yang
./.
4
c.458C>G
r.(?)
p.(Pro153Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162622239G>C
Wang Y, 2008;Okubadejo N, 2008;CamRos ST, 2009
PARK2_000051
-
?
?
PD
-
-
-
1
Y Yang
./.
4
c.483A>T
r.(?)
p.(Lys161Asn)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162622214T>A
Abbas N, 1999
PARK2_000054
-
?
?
PD
-
-
-
1
Y Yang
./.
4
c.497G>A
r.(?)
p.(Cys166Tyr)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162622200C>T
Brooks J, 2009
PARK2_000053
-
?
?
PD
-
-
-
1
Y Yang
./.
4
c.500G>A
r.(?)
p.(Ser167Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162622197C>T
Hattori N, 1998;Wang M, 1999;Satoh J, 1999;Hu CJ, 2000;Mellick GD, 2001;Oliveri RL, 2001;Mata IF, 2002;Eerola J, 2002;Foroud T, 2003
PARK2_000002
-
?
?
PD
-
-
-
1
Y Yang
./.
4
c.500G>A
r.(?)
p.(Ser167Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162622197C>T
Gaweda-Walerych K1, Safranow K, Jasinska-Myga B, Bialecka M, Klodowska-Duda G, Rudzinska M, Czyzewski K, Cobb SA, Slawek J, Styczynska M, Opala G,(2012)
PARK2_000002
-
?
?
PD
Gaweda-Walerych K1, Safranow K, Jasinska-Myga B, Bialecka M, Klodowska-Duda G, Rudzinska M, Czyzewski K, Cobb SA, Slawek J, Styczynska M, Opala G,(2012)
-
-
1
Y Yang
./.
4
c.500G>A
r.(?)
p.(Ser167Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162622197C>T
Ros R1, Ampuero I, García de Yébenes J.(2008)
PARK2_000002
-
?
?
PSP
Ros R1, Ampuero I, García de Yébenes J.(2008)
-
-
1
Y Yang
./.
4
c.511C>T
r.(?)
p.(Gln171*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
Unknown
g.162622186G>A
Brooks J, 2009
PARK2_000048
-
?
?
PD
-
-
-
1
Y Yang
./.
4
c.518C>T
r.(?)
p.(Thr173Met)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.162622179G>A
Kay DM, 2007;Pankratz N, 2009
PARK2_000104
-
?
?
PD
-
-
-
1
Y Yang
./.
4
c.522C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
Unknown
g.162622175G>A
Kay DM, 2007;Brooks J, 2009
PARK2_000103
-
?
?
PD
-
-
-
1
Y Yang
./.
4
c.531C>A
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0316 transversion
-
Unknown
g.162622166G>T
Kay DM, 2007
PARK2_000034
-
?
?
PD
-
-
-
1
Y Yang
./.
4i
c.534+10T>C
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
Unknown
g.162622153A>G
Chan DK, 2008
PARK2_000023
-
?
?
PD
-
-
-
1
Y Yang
./.
4i
c.535-9T>A
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0316 transversion
-
Unknown
g.162475215A>T
Pankratz N, 2009
PARK2_000024
-
?
?
PD
-
-
-
1
Y Yang
./.
5
c.536delG
r.(?)
p.(Gly179Valfs*9)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
Unknown
g.162475205delC
Hattori N, 1998
PARK2_000025
-
?
?
PD
-
-
-
1
Y Yang
./.
5
c.574A>C
r.(?)
p.(Met192Leu)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162475167T>G
Hedrich K, 2002;Clark LN, 2006;Wang Y, 2008;Okubadejo N, 2008;Sironi F, 2008;Bardien S, 2009;Nuytemans K, 2009
PARK2_000026
-
?
?
PD
-
-
-
1
Y Yang
./.
5
c.574A>G
r.(?)
p.(Met192Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162475167T>C
Foroud T, 2003;D?chsel JC, 2006;Pankratz N, 2009
PARK2_000027
-
?
?
PD
-
-
-
1
Y Yang
./.
5
c.600C>A
r.(?)
p.(His200Gln)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162475141G>T
Bardien S, 2009
PARK2_000028
-
?
?
PD
-
-
-
1
Y Yang
./.
5i
c.618+2T>A
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0316 transversion
-
Unknown
g.162475121A>T
Scherfler C, 2004
PARK2_000029
-
?
?
PD
-
-
-
1
Y Yang
./.
6
c.633A>T
r.(?)
p.(Lys211Asn)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162394435T>A
van de Warrenburg BP, 2001;Kann M, 2002;Nichols WC, 2002;Foroud T, 2003;Klein C, 2005;Hertz JM, 2006;Aguiar P de C, 2008;Barsottini OG, 2009;Pankratz N, 2009
PARK2_000030
-
?
?
PD
-
-
-
1
Y Yang
./.
6
c.634delT
r.(?)
p.(Cys212Valfs*13)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
Unknown
g.162394434delA
Sironi F, 2008
PARK2_000031
-
?
?
PD
-
-
-
1
Y Yang
./.
6
c.634T>G
r.(?)
p.(Cys212Gly)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162394434A>C
Shyu WC, 2005
PARK2_000032
-
?
?
PD
-
-
-
1
Y Yang
./.
6
c.635G>A
r.(?)
p.(Cys212Tyr)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162394433C>T
Pineda-Trujillo N, 2001;Hoenicka J, 2002
PARK2_000001
-
?
?
PD
-
-
-
1
Y Yang
./.
6
c.635G>A
r.(?)
p.(Cys212Tyr)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162394433C>T
Morales B1, Martínez A, Gonzalo I, Vidal L, Ros R, Gomez-Tortosa E, Rabano A, Ampuero I, Sánchez M, Hoenicka J, García De Yébenes J.(2002)
PARK2_000001
-
?
?
PSP
Morales B1, Martínez A, Gonzalo I, Vidal L, Ros R, Gomez-Tortosa E, Rabano A, Ampuero I, Sánchez M, Hoenicka J, García De Yébenes J.(2002)
-
-
1
Y Yang
./.
6
c.645C>A
r.(?)
p.(His215Gln)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162394423G>T
Pigullo S, 2004
PARK2_000012
-
?
?
PD
-
-
-
1
Y Yang
./.
6
c.688G>A
r.(?)
p.(Ala230Thr)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162394380C>T
Sironi F, 2008
PARK2_000011
-
?
?
PD
-
-
-
1
Y Yang
./.
6
c.701G>A
r.(?)
p.(Arg234Gln)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162394367C>T
Hertz JM, 2006;Brooks J, 2009;Brooks JA, 2009
PARK2_000010
-
?
?
PD
-
-
-
1
Y Yang
./.
6
c.712delT
r.(?)
p.(Cys238Alafs*21)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
Unknown
g.162394356delA
Guo JF, 2010
PARK2_000009
-
?
?
PD
-
-
-
1
Y Yang
./.
6
c.714C>G
r.(?)
p.(Cys238Trp)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162394354G>C
Sironi F, 2008
PARK2_000016
-
?
?
PD
-
-
-
1
Y Yang
./.
6
c.714C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
Unknown
g.162394354G>A
Bardien S, 2009
PARK2_000015
-
?
?
PD
-
-
-
1
Y Yang
./.
6
c.719C>G
r.(?)
p.(Thr240Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162394349G>C
Hattori N, 1998
PARK2_000014
-
?
?
PD
-
-
-
1
Y Yang
./.
6
c.719C>G
r.(?)
p.(Thr240Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162394349G>C
Hattori N, 1998
PARK2_000014
-
?
?
PD
-
-
-
1
Y Yang
./.
6
c.719C>T
r.(?)
p.(Thr240Met)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.162394349G>A
Foroud T, 2003;Periquet M, 2003;Madegowda RH, 2005;Schlitter AM, 2006;Deng H, 2006;Bras J, 2008;Sironi F, 2008;Amboni M, 2009;CamRos ST, 2009;Pankratz N, 2009
PARK2_000013
-
?
?
PD
-
-
-
1
Y Yang
./.
6
c.727G>A
r.(?)
p.(Asp243Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162394341C>T
Romito LM, 2005;Brooks J, 2009
PARK2_000018
-
?
?
PD
-
-
-
1
Y Yang
./.
6
c.730G>A
r.(?)
p.(Val244Ile)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162394338C>T
Kay DM, 2007
PARK2_000017
-
?
?
PD
-
-
-
1
Y Yang
./.
7
c.758G>A
r.(?)
p.(Cys253Tyr)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162206917C>T
Sun M, 2006;Wang Y, 2008;Sironi F, 2008
PARK2_000121
-
?
?
PD
-
-
-
1
Y Yang
./.
7
c.758G>T
r.(?)
p.(Cys253Phe)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162206917C>A
Guo JF, 2008
PARK2_000122
-
?
?
PD
-
-
-
1
Y Yang
./.
7
c.766C>T
r.(?)
p.(Arg256Cys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.162206909G>A
Abbas N, 1999;Hedrich K, 2002;Periquet M, 2003;Shyu WC, 2005;Schlitter AM, 2006;Lesage S, 2008;Moro E, 2008;Nuytemans K, 2009;Pankratz N, 2009
PARK2_000120
-
?
?
PD
-
-
-
1
Y Yang
./.
7
c.772G>A
r.(?)
p.(Val258Met)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162206903C>T
Shyu WC, 2005
PARK2_000118
-
?
?
PD
-
-
-
1
Y Yang
./.
7
c.783A>G
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
Unknown
g.162206892T>C
Hedrich K, 2002;Clark LN, 2006;Okubadejo N, 2008;Brüggemann N, 2009
PARK2_000119
-
?
?
PD
-
-
-
1
Y Yang
./.
7
c.794A>G
r.(?)
p.(His265Arg)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162206881T>C
Nuytemans K, 2009
PARK2_000116
-
?
?
PD
-
-
-
1
Y Yang
./.
7
c.798_799insA
r.(?)
p.(Tyr267Ilefs*8)
VariO:0142 DNA insertion
VariO:0023 amphigoric amino acid indel
Unknown
g.162206876_162206877insT
Padmaja MV1, Jayaraman M, Srinivasan AV, Srisailapathy CR, Ramesh A.(2012)
PARK2_000139
-
?
?
PD
Padmaja MV1, Jayaraman M, Srinivasan AV, Srisailapathy CR, Ramesh A.(2012)
India
-
1
Y Yang
./.
7
c.799T>C
r.(?)
p.(Tyr267His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.162206876A>G
Lee MJ, 2009
PARK2_000117
-
?
?
PD
-
-
-
1
Y Yang
./.
7
c.804T>A
r.(?)
p.(Cys268*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
Unknown
g.162206871A>T
Scherfler C, 2004
PARK2_000125
-
?
?
PD
-
-
-
1
Y Yang
./.
7
c.813A>T
r.(?)
p.(Arg271Ser)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162206862T>A
Chen R, 2003
PARK2_000126
-
?
?
PD
-
-
-
1
Y Yang
./.
7
c.814C>A
r.(?)
p.(Leu272Ile)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162206861G>T
Li X, 2005
PARK2_000107
-
?
?
PD
-
-
-
1
Y Yang
./.
7
c.816C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
Unknown
g.162206859G>A
Chaudhary S, 2006
PARK2_000106
-
?
?
PD
-
-
-
1
Y Yang
./.
7
c.818A>G
r.(?)
p.(Asn273Ser)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162206857T>C
Lesage S, 2008;Lesage S, 2008;Nuytemans K, 2009
PARK2_000109
-
?
?
PD
-
-
-
1
Y Yang
./.
7
c.823C>T
r.(?)
p.(Arg275Trp)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.162206852G>A
Abbas N, 1999;Pramstaller PP, 2002;Hedrich K, 2002;Kann M, 2002;Nichols WC, 2002;Foroud T, 2003;Rawal N, 2003;Periquet M, 2003;Scherfler C, 2004;WIy J, 2004;Hedrich K, 2004;Arias Vásquez A, 2004;Klein C, 2005;Sinha R, 2005;Clark LN, 2006
PARK2_000108
-
?
?
PD
-
-
-
1
Y Yang
./.
7
c.823C>T
r.(?)
p.(Arg275Trp)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.162206852G>A
Ruffmann C1, Zini M, Goldwurm S, Bramerio M, Spinello S, Rusconi D, Gambacorta M, Tagliavini F, Pezzoli G, Giaccone G.(2012)
PARK2_000108
-
?
?
PD
Ruffmann C1, Zini M, Goldwurm S, Bramerio M, Spinello S, Rusconi D, Gambacorta M, Tagliavini F, Pezzoli G, Giaccone G.(2012)
-
-
1
Y Yang
./.
7
c.823C>T
r.(?)
p.(Arg275Trp)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.162206852G>A
Li H1, Yusufujiang A2, Naser S2, Zhu Y3, Maimaiti M2, He X2, Bu J2, Meng X2, Wang M2, Li J2, Dina B2, Yang L2, Nayi Z2, Dang H2, Wang C2, Amiti D2, Aji A2, (2014)
PARK2_000108
-
?
?
PD
Li H1, Yusufujiang A2, Naser S2, Zhu Y3, Maimaiti M2, He X2, Bu J2, Meng X2, Wang M2, Li J2, Dina B2, Yang L2, Nayi Z2, Dang H2, Wang C2, Amiti D2, Aji A2, (2014)
Xinjiang, China
-
1
Y Yang
./.
7
c.837C>T
r.(=)
p.(=)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
-
Unknown
g.162206838G>A
Pigullo S, 2004;Macedo MG, 2009
PARK2_000111
-
?
?
PD
-
-
-
1
Y Yang
./.
7
c.838G>A
r.(?)
p.(Asp280Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.162206837C>T
Scherfler C, 2004;Wang Y, 2008;Bardien S, 2009
PARK2_000110
-
?
?
PD
-
-
-
1
Y Yang
./.
7
c.848T>C
r.(?)
p.(Leu283Pro)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.162206827A>G
Macedo MG, 2009
PARK2_000113
-
?
?
PD
-
-
-
1
Y Yang
./.
7
c.850G>C
r.(?)
p.(Gly284Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162206825C>G
Wang T, 2004;Wu RM, 2005
PARK2_000112
-
?
?
PD
-
-
-
1
Y Yang
./.
7
c.850G>C
r.(?)
p.(Gly284Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162206825C>G
Li H1, Yusufujiang A2, Naser S2, Zhu Y3, Maimaiti M2, He X2, Bu J2, Meng X2, Wang M2, Li J2, Dina B2, Yang L2, Nayi Z2, Dang H2, Wang C2, Amiti D2, Aji A2, (2014)
PARK2_000112
-
?
?
PD
Li H1, Yusufujiang A2, Naser S2, Zhu Y3, Maimaiti M2, He X2, Bu J2, Meng X2, Wang M2, Li J2, Dina B2, Yang L2, Nayi Z2, Dang H2, Wang C2, Amiti D2, Aji A2, (2014)
Xinjiang, China
-
1
Y Yang
./.
7
c.865T>G
r.(?)
p.(Cys289Gly)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.162206810A>C
Lesage S, 2008
PARK2_000114
-
?
?
PD
-
-
-
1
Y Yang
./.
7i
c.872-3C>G
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0316 transversion
-
Unknown
g.161990451G>C
Nuytemans K, 2009
PARK2_000020
-
?
?
PD
-
-
-
1
Y Yang
./.
7i
c.872-1G>C
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0316 transversion
-
Unknown
g.161990449C>G
Rawal N, 2003
PARK2_000021
-
?
?
PD
-
-
-
1
Y Yang
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
Next
Last »
Powered by
LOVD v.3.0
Build 29
LOVD software ©2004-2023
Leiden University Medical Center