ALS 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
DCTN1
TARDBP
FUS
ALS2
SOD1
VAPB
Related genes
ADARB1
CNTF
DPP6
SETX
RNF19A
CHMP2B
ANG
GRIA2
HFE
APEX1
APOE
ITPR2
KDR
LIF
MAOB
NEFH
OGG1
PON1
PON2
PON3
FGGY
PRPH
SLC1A2
SMN1
SMN2
SPAST
VEGFA
Link
PubMed
OMIM
Ensembl
PDB
JSNP
ALS Association
DCTN1dynactin 1 (p150, glued homolog, Drosophila)
Detail information
Gene Symbol
DCTN1
Full name
dynactin 1 (p150, glued homolog, Drosophila)
Synonym
DAP-150, DP-150, HMN7B, P135
Genome position
chromosome: 2; Location: 2p13
74607963 .. 74588281 (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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expanded image
a.a. :
NP_004073.2/Q14203
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mRNA :
NM_004082.2
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Mutation Search
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Mutation & Clinical information
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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(Registration is needed to see this information, because unpublished data is contained.)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
show 1txq.pdb
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Structure information
Exon
Start AA
End AA
Structure
1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32
1
1278
Chain
2
48
90
Domain
8, 9, 10, 11, 12, 13, 14, 15
213
547
Coiled-coil region
24, 25, 26
943
1049
Coiled-coil region
30, 31
1182
1211
Coiled-coil region
8
164
191
Compositionally biased region
15
541
541
Modified residue
1, 2, 3, 4, 5
1
138
Splice variant
2
59
59
Sequence variant
8
163
163
Sequence variant
1
10
10
Sequence conflict
5
132
138
Sequence conflict
18
712
712
Sequence conflict
28
1081
1081
Sequence conflict
2
32
35
Strand
2
36
38
Turn
2
41
48
Strand
2
51
55
Strand
2
57
65
Strand
2
67
73
Strand
2
76
78
Strand
2
86
89
Strand
2
91
93
Helix
3
94
96
Strand
Overview of mutations
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(Registration is needed to see this information, because unpublished data is contained.)
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