PD mutation database
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Table of contents
Detail information
Sequence information
Mutation Search
Mutation & Clinical information
Multiple alignments
3D structure
Structure information
Overview of mutations
Reference information
Causative genes
PARK7
LRRK2
GBA
HTRA2
NR4A2
PARK2
PINK1
SNCA
SNCG
UCHL1
SNCAIP
Related genes
GPR37
MTX1
SNCB
Link
PubMed
OMIM
Ensembl
PDB
JSNP
World Parkinson Disease Association
PARK2Parkinson disease (autosomal recessive, juvenile) 2, parkin
Detail information
Gene Symbol
PARK2
Full name
Parkinson disease (autosomal recessive, juvenile) 2, parkin
Synonym
AR-JP, LPRS2, PDJ, PRKN
Genome position
chromosome: 6; Location: 6q25.2-q27
163148802 .. 161769670 (strand : -)
Links
EntrezGene
UCSC
OMIM
The GRCh37/hg19 sequence assembly is used for the human genomic reference sequence.
Sequence information
Exon : Intron
100:1
50:1
10:1
3:1
1:1
Age onset & duration
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a.a. :
NP_004553.1
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mRNA :
NM_004562.1
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Mutation Search
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Mutation & Clinical information
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Experimental Data only
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Multiple alignments
Multiple alignments of all patients' sequences
(Registration is needed to see this information, because unpublished data is contained.)
Multiple alignments of orthologous sequences
3D structure
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Structure information
Exon
Start AA
End AA
Structure
1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11
1
465
Chain
1, 2
1
76
Domain
5, 6, 7
238
293
Zinc finger region
8, 9
313
377
Zinc finger region
10, 11
418
449
Zinc finger region
4, 5
204
238
Region of interest
6, 7
257
293
Region of interest
1, 2, 3, 4
1
191
Splice variant
1, 2
1
79
Splice variant
4, 5
179
206
Splice variant
7
290
290
Splice variant
7
291
297
Splice variant
7, 8, 9, 10, 11
298
465
Splice variant
9
362
368
Splice variant
9, 10, 11
369
465
Splice variant
1
15
15
Sequence variant
1
33
33
Sequence variant
1
37
37
Sequence variant
1
42
42
Sequence variant
1
46
46
Sequence variant
2
82
82
Sequence variant
2
92
92
Sequence variant
2
100
100
Sequence variant
3
161
161
Sequence variant
3
167
167
Sequence variant
4
192
192
Sequence variant
5
211
211
Sequence variant
5
211
211
Sequence variant
5
212
212
Sequence variant
5
240
240
Sequence variant
5
240
240
Sequence variant
6
253
253
Sequence variant
6
256
256
Sequence variant
6
271
271
Sequence variant
6
275
275
Sequence variant
6
280
280
Sequence variant
6
284
284
Sequence variant
6
289
289
Sequence variant
8
328
328
Sequence variant
8
334
334
Sequence variant
8
339
339
Sequence variant
8
351
351
Sequence variant
9
366
366
Sequence variant
9
380
380
Sequence variant
10
394
394
Sequence variant
10
415
415
Sequence variant
11
430
430
Sequence variant
11
431
431
Sequence variant
11
437
437
Sequence variant
11
441
441
Sequence variant
8
332
332
Mutagenesis site
8
337
337
Mutagenesis site
9
365
365
Mutagenesis site
10
418
418
Mutagenesis site
10
421
421
Mutagenesis site
11
431
431
Mutagenesis site
5
223
223
Sequence conflict
6, 7
289
290
Sequence conflict
8
339
339
Sequence conflict
1
2
7
Strand
1
8
10
Turn
1
11
17
Strand
1
19
21
Strand
1
23
33
Helix
1
38
45
Strand
1
48
50
Strand
1
52
55
Turn
2
57
60
Helix
2
63
70
Strand
8
318
320
Strand
8
334
336
Strand
8
354
356
Strand
9
366
369
Turn
9
377
379
Strand
Overview of mutations
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(Registration is needed to see this information, because unpublished data is contained.)
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