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Results for the Protein:
NP_001243054
388890228
1118
CHIT1
NCBI
chitotriosidase-1 isoform 2 precursor [Homo sapiens]
Known Diseases associated with this Protein:
CHITOTRIOSIDASE DEFICIENCY
2
0
2
0
0
Tips:
The Domains on the Default View are decided by the Domain's E-Value.
Clicking a check box will display or hide the correlated domain.
To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.
Default View:
ChiA - COG3325
GH18_chitobiase - cd02875
GH18_CFLE_spore_hydr - cd02874
GH18_chitinase_D-lik - cd02871
Glyco_hydro_18 - pfam00704
GH18_IDGF - cd02873
GH18_zymocin_alpha - cd02878
Glyco_18 - smart00636
GH18_3CO4_chitinase - cd06545
GH18_chitinase-like - cd00598
GH18_chitolectin_chi - cd02872
GH18_chitinase - cd06548
GH18_plant_chitinase - cd02879
ChtBD2 - smart00494
CBM_14 - pfam01607
RefSeq Protein:
NP_001243054
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
GH18_CFLE_spore_hydr
cd02874
1.2e-08
21
352
GH18_chitinase_D-lik
cd02871
8.7e-05
22
282
GH18_IDGF
cd02873
2.5e-23
23
366
GH18_zymocin_alpha
cd02878
1.1e-12
23
344
GH18_chitinase-like
cd00598
7.8e-112
24
344
GH18_chitolectin_chi
cd02872
1.1e-232
24
366
GH18_3CO4_chitinase
cd06545
4.1e-06
24
362
GH18_chitinase
cd06548
2.2e-80
24
344
GH18_plant_chitinase
cd02879
4.4e-52
29
350
ChiA
COG3325
4e-28
1
373
Glyco_hydro_18
pfam00704
2e-133
22
344
CBM_14
pfam01607
1.6e-06
401
447
Glyco_18
smart00636
3.1e-146
23
344
ChtBD2
smart00494
2.2e-09
399
447
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
OMIM
600031.0003
Disease
p.GLU74LYS
CHITOTRIOSIDASE DEFICIENCY
OMIM
600031.0004
Disease
p.GLY1SER
CHITOTRIOSIDASE DEFICIENCY
Please Cite:
Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
DMDM_info@umbc.edu
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