ALD 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
ABCD1
Related genes
ABCD2
Link
PubMed
OMIM
Ensembl
PDB
JSNP
X-linked ALD Database
ABCD1ATP-binding cassette, sub-family D (ALD), member 1
Detail information
Gene Symbol
ABCD1
Full name
ATP-binding cassette, sub-family D (ALD), member 1
Synonym
ABC42, ALD, ALDP, AMN
Genome position
chromosome: X; Location: Xq28
152990335 .. 153010180 (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. :
P33897
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mRNA :
BC015541.1
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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(Registration is needed to see this information, because unpublished data is contained.)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
3D Structure data is not found.
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Structure information
Exon
Start AA
End AA
Structure
1, 2, 3, 4, 5, 6, 7, 8, 9, 10
1
745
Chain
1
92
112
Transmembrane region
1
131
151
Transmembrane region
1
238
258
Transmembrane region
2
333
353
Transmembrane region
5
473
493
Transmembrane region
1, 2, 3
94
386
Domain
5, 6, 7, 8, 9, 10
474
700
Domain
6
507
514
Nucleotide phosphate-binding region
1
67
186
Region of interest
1
214
214
Glycosylation site
1
13
13
Sequence variant
1
88
88
Sequence variant
1
90
90
Sequence variant
1
98
98
Sequence variant
1
99
99
Sequence variant
1
103
103
Sequence variant
1
104
104
Sequence variant
1
104
104
Sequence variant
1
105
105
Sequence variant
1
105
105
Sequence variant
1
107
107
Sequence variant
1
108
108
Sequence variant
1
108
108
Sequence variant
1
113
113
Sequence variant
1
113
113
Sequence variant
1
116
116
Sequence variant
1
138
141
Sequence variant
1
141
141
Sequence variant
1
143
143
Sequence variant
1
148
148
Sequence variant
1
149
149
Sequence variant
1
152
152
Sequence variant
1
152
152
Sequence variant
1
152
152
Sequence variant
1
152
152
Sequence variant
1
161
161
Sequence variant
1
163
163
Sequence variant
1
163
163
Sequence variant
1
174
174
Sequence variant
1
174
174
Sequence variant
1
174
174
Sequence variant
1
178
178
Sequence variant
1
181
181
Sequence variant
1
182
182
Sequence variant
1
189
189
Sequence variant
1
190
190
Sequence variant
1
194
194
Sequence variant
1
198
198
Sequence variant
1
200
200
Sequence variant
1
200
200
Sequence variant
1
207
207
Sequence variant
1
211
211
Sequence variant
1
213
213
Sequence variant
1
214
214
Sequence variant
1
217
217
Sequence variant
1
218
218
Sequence variant
1
220
220
Sequence variant
1
221
221
Sequence variant
1
224
224
Sequence variant
1
229
229
Sequence variant
1
254
254
Sequence variant
1
254
254
Sequence variant
1
263
263
Sequence variant
1
266
266
Sequence variant
1
271
271
Sequence variant
1
274
274
Sequence variant
1
276
276
Sequence variant
1
277
277
Sequence variant
1
277
277
Sequence variant
1
277
277
Sequence variant
1
280
280
Sequence variant
1
285
285
Sequence variant
1
291
291
Sequence variant
1
291
291
Sequence variant
1
291
291
Sequence variant
1
294
294
Sequence variant
1
296
296
Sequence variant
1
298
298
Sequence variant
1
300
300
Sequence variant
2
302
302
Sequence variant
2
322
322
Sequence variant
2
336
336
Sequence variant
2
339
339
Sequence variant
2
342
342
Sequence variant
2
343
343
Sequence variant
2
343
343
Sequence variant
3
389
389
Sequence variant
3
389
389
Sequence variant
3
401
401
Sequence variant
3
401
401
Sequence variant
4
418
418
Sequence variant
4
427
427
Sequence variant
5
484
484
Sequence variant
6
503
503
Sequence variant
6
507
507
Sequence variant
6
512
512
Sequence variant
6
514
514
Sequence variant
6
515
515
Sequence variant
6
518
518
Sequence variant
6
518
518
Sequence variant
6
522
522
Sequence variant
6
528
528
Sequence variant
6
529
529
Sequence variant
6
534
534
Sequence variant
6
540
540
Sequence variant
6
543
543
Sequence variant
6
544
544
Sequence variant
7
552
552
Sequence variant
7
554
554
Sequence variant
7
556
556
Sequence variant
7
560
560
Sequence variant
7
560
560
Sequence variant
7
560
560
Sequence variant
7
566
566
Sequence variant
7
591
591
Sequence variant
7
591
591
Sequence variant
7
591
591
Sequence variant
8
606
606
Sequence variant
8
606
606
Sequence variant
8
608
608
Sequence variant
8
609
609
Sequence variant
8
609
609
Sequence variant
8
616
616
Sequence variant
8
617
617
Sequence variant
8
617
617
Sequence variant
8
617
617
Sequence variant
9
626
626
Sequence variant
9
626
626
Sequence variant
9
629
629
Sequence variant
9
630
630
Sequence variant
9
631
631
Sequence variant
9
632
632
Sequence variant
9
633
633
Sequence variant
9
633
633
Sequence variant
9
635
635
Sequence variant
9
636
636
Sequence variant
9
638
638
Sequence variant
9
646
646
Sequence variant
9
654
654
Sequence variant
9
657
657
Sequence variant
9
660
660
Sequence variant
9
660
660
Sequence variant
10
667
667
Sequence variant
10
668
668
Sequence variant
10
679
679
Sequence variant
10
693
693
Sequence variant
1
123
123
Sequence conflict
Overview of mutations
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(Registration is needed to see this information, because unpublished data is contained.)
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