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
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PubMed
OMIM
Ensembl
PDB
JSNP
ALS Association
CHMP2Bchromatin modifying protein 2B
Detail information
Gene Symbol
CHMP2B
Full name
chromatin modifying protein 2B
Synonym
CHMP2.5, DKFZP564O123, DMT1, VPS2-2, VPS2B
Genome position
chromosome: 3; Location: 3p11.2
87276596 .. 87304648 (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_054762.2
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mRNA :
NM_014043.2
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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(Registration is needed to see this information, because unpublished data is contained.)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
3D Structure data is not found.
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Structure information
Exon
Start AA
End AA
Structure
1, 2, 3, 4, 5, 6
1
213
Chain
1, 2
25
55
Coiled-coil region
5
199
199
Modified residue
1
29
29
Sequence variant
4
148
148
Sequence variant
6
206
206
Sequence variant
1
8
8
Sequence conflict
3
113
113
Sequence conflict
5
201
201
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(Registration is needed to see this information, because unpublished data is contained.)
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