NDDVD - Neurodegenerative Diseases Variation Database
PARK2 (parkin RBR E3 ubiquitin protein ligase)
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Curator:
Y Yang
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View all transcripts of gene PARK2
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View all variants affecting transcripts
View unique variants in gene PARK2
View all variants in gene PARK2
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View all individuals with variants in gene PARK2
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View all diseases associated with gene PARK2
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View all screenings for gene PARK2
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All screenings for gene PARK2
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.
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
How to query this table
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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.
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Legend
How to query
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Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000003448
00003448
?
?
1
Y Yang
0000003449
00003449
?
?
1
Y Yang
0000003450
00003450
?
?
1
Y Yang
0000003451
00003451
?
?
1
Y Yang
0000003452
00003452
?
?
1
Y Yang
0000003453
00003453
?
?
1
Y Yang
0000003454
00003454
?
?
1
Y Yang
0000003455
00003455
?
?
1
Y Yang
0000003456
00003456
?
?
1
Y Yang
0000003457
00003457
?
?
1
Y Yang
0000003458
00003458
?
?
1
Y Yang
0000003459
00003459
?
?
1
Y Yang
0000003460
00003460
?
?
1
Y Yang
0000003461
00003461
?
?
1
Y Yang
0000003462
00003462
?
?
1
Y Yang
0000003463
00003463
?
?
1
Y Yang
0000003464
00003464
?
?
1
Y Yang
0000003465
00003465
?
?
1
Y Yang
0000003466
00003466
?
?
1
Y Yang
0000003467
00003467
?
?
1
Y Yang
0000003468
00003468
?
?
1
Y Yang
0000003469
00003469
?
?
1
Y Yang
0000003470
00003470
?
?
1
Y Yang
0000003471
00003471
?
?
1
Y Yang
0000003472
00003472
?
?
1
Y Yang
0000003473
00003473
?
?
1
Y Yang
0000003474
00003474
?
?
1
Y Yang
0000003475
00003475
?
?
1
Y Yang
0000003476
00003476
?
?
1
Y Yang
0000003477
00003477
?
?
1
Y Yang
0000003478
00003478
?
?
1
Y Yang
0000003479
00003479
?
?
1
Y Yang
0000003480
00003480
?
?
1
Y Yang
0000003481
00003481
?
?
1
Y Yang
0000003482
00003482
?
?
1
Y Yang
0000003483
00003483
?
?
1
Y Yang
0000003484
00003484
?
?
1
Y Yang
0000003485
00003485
?
?
1
Y Yang
0000003486
00003486
?
?
1
Y Yang
0000003487
00003487
?
?
1
Y Yang
0000003488
00003488
?
?
1
Y Yang
0000003489
00003489
?
?
1
Y Yang
0000003490
00003490
?
?
1
Y Yang
0000003491
00003491
?
?
1
Y Yang
0000003492
00003492
?
?
1
Y Yang
0000003493
00003493
?
?
1
Y Yang
0000003494
00003494
?
?
1
Y Yang
0000003495
00003495
?
?
1
Y Yang
0000003496
00003496
?
?
1
Y Yang
0000003497
00003497
?
?
1
Y Yang
0000003498
00003498
?
?
1
Y Yang
0000003499
00003499
?
?
1
Y Yang
0000003500
00003500
?
?
1
Y Yang
0000003501
00003501
?
?
1
Y Yang
0000003502
00003502
?
?
1
Y Yang
0000003503
00003503
?
?
1
Y Yang
0000003504
00003504
?
?
1
Y Yang
0000003505
00003505
?
?
1
Y Yang
0000003506
00003506
?
?
1
Y Yang
0000003507
00003507
?
?
1
Y Yang
0000003508
00003508
?
?
1
Y Yang
0000003509
00003509
?
?
1
Y Yang
0000003510
00003510
?
?
1
Y Yang
0000003511
00003511
?
?
1
Y Yang
0000003512
00003512
?
?
1
Y Yang
0000003513
00003513
?
?
1
Y Yang
0000003514
00003514
?
?
1
Y Yang
0000003515
00003515
?
?
1
Y Yang
0000003516
00003516
?
?
1
Y Yang
0000003517
00003517
?
?
1
Y Yang
0000003518
00003518
?
?
1
Y Yang
0000003519
00003519
?
?
1
Y Yang
0000003520
00003520
?
?
1
Y Yang
0000003521
00003521
?
?
1
Y Yang
0000003522
00003522
?
?
1
Y Yang
0000003523
00003523
?
?
1
Y Yang
0000003524
00003524
?
?
1
Y Yang
0000003525
00003525
?
?
1
Y Yang
0000003526
00003526
?
?
1
Y Yang
0000003527
00003527
?
?
1
Y Yang
0000003528
00003528
?
?
1
Y Yang
0000003529
00003529
?
?
1
Y Yang
0000003530
00003530
?
?
1
Y Yang
0000003531
00003531
?
?
1
Y Yang
0000003532
00003532
?
?
1
Y Yang
0000003533
00003533
?
?
1
Y Yang
0000003534
00003534
?
?
1
Y Yang
0000003535
00003535
?
?
1
Y Yang
0000003536
00003536
?
?
1
Y Yang
0000003537
00003537
?
?
1
Y Yang
0000003538
00003538
?
?
1
Y Yang
0000003539
00003539
?
?
1
Y Yang
0000003540
00003540
?
?
1
Y Yang
0000003541
00003541
?
?
1
Y Yang
0000003542
00003542
?
?
1
Y Yang
0000003543
00003543
?
?
1
Y Yang
0000003544
00003544
?
?
1
Y Yang
0000003545
00003545
?
?
1
Y Yang
0000003546
00003546
?
?
1
Y Yang
0000003547
00003547
?
?
1
Y Yang
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