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Results for the Protein:
NP_000874
34328930
3614
IMPDH1
NCBI
inosine-5'-monophosphate dehydrogenase 1 isoform a [Homo sapiens]
Known Diseases associated with this Protein:
LEBER CONGENITAL AMAUROSIS 11
RETINITIS PIGMENTOSA 10
5
0
5
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:
GuaB - COG0516
IMPDH - pfam00478
IMPDH - cd00381
TIM_phosphate_bindin - cd04722
COG0517 - COG0517
CBS - pfam00571
CBS_pair_MET2_assoc - cd04605
CBS_pair_BON_assoc - cd04586
CBS_pair_IMPDH - cd04601
CBS_pair_IMPDH_2 - cd04602
CBS_pair_20 - cd04633
CBS_pair_21 - cd04634
CBS_pair_9 - cd04622
CBS_pair_22 - cd04635
CBS_pair_18 - cd04631
CBS_pair_15 - cd04803
CBS_pair_3 - cd04802
CBS_pair_10 - cd04623
CBS_pair_M50_like - cd04801
CBS_pair_CAP-ED_DUF2 - cd04800
CBS_pair_25 - cd04638
CBS_pair_23 - cd04636
CBS_pair_SpoIVFB_Eri - cd04613
CBS_pair_CAP-ED_DUF2 - cd04587
CBS_pair_SpoIVFB_Eri - cd04612
CBS_pair_ACT_assoc2 - cd04585
CBS_pair_ACT_assoc - cd04584
CBS_pair - cd02205
CBS_pair_DHH_polyA_P - cd04595
CBS_pair_CAP-ED_DUF2 - cd04588
CBS_pair_PAS_GGDEF_D - cd04611
CBS_pair_8 - cd04621
CBS_pair_ParBc_assoc - cd04610
CBS_pair_GGDEF_assoc - cd04599
CBS_pair_PALP_assoc2 - cd04609
CBS_pair_HPP_assoc - cd04600
CBS - smart00116
RefSeq Protein:
NP_000874
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
IMPDH
cd00381
4e-290
114
578
TIM_phosphate_bindin
cd04722
1.3e-17
150
473
COG0517
COG0517
1.4e-25
189
313
CBS_pair_BON_assoc
cd04586
2.5e-05
200
315
CBS_pair_IMPDH
cd04601
8.4e-22
200
315
CBS_pair_IMPDH_2
cd04602
1.2e-72
200
315
CBS_pair_MET2_assoc
cd04605
0.0002
200
315
CBS_pair
cd02205
2.8e-19
201
315
CBS_pair_ACT_assoc
cd04584
8.6e-07
201
315
CBS_pair_ACT_assoc2
cd04585
6.8e-05
201
315
CBS_pair_CAP-ED_DUF2
cd04587
8.1e-05
201
315
CBS_pair_CAP-ED_DUF2
cd04588
0.00026
201
314
CBS_pair_DHH_polyA_P
cd04595
0.00063
201
315
CBS_pair_GGDEF_assoc
cd04599
4.8e-06
201
315
CBS_pair_HPP_assoc
cd04600
0.00078
201
315
CBS_pair_PALP_assoc2
cd04609
6e-05
201
315
CBS_pair_ParBc_assoc
cd04610
8e-07
201
315
CBS_pair_PAS_GGDEF_D
cd04611
0.00024
201
315
CBS_pair_SpoIVFB_Eri
cd04613
0.00089
201
315
CBS_pair_8
cd04621
0.00026
201
315
CBS_pair_SpoIVFB_Eri
cd04612
8.8e-08
201
315
CBS_pair_10
cd04623
2.4e-05
201
315
CBS_pair_9
cd04622
5e-05
201
315
CBS_pair_18
cd04631
7.5e-07
201
315
CBS_pair_20
cd04633
1.3e-05
201
315
CBS_pair_21
cd04634
0.001
201
315
CBS_pair_22
cd04635
0.0003
201
315
CBS_pair_23
cd04636
4.8e-05
201
315
CBS_pair_25
cd04638
3.6e-05
201
315
CBS_pair_CAP-ED_DUF2
cd04800
1.9e-06
201
315
CBS_pair_M50_like
cd04801
9.2e-05
201
315
CBS_pair_3
cd04802
5.3e-05
201
315
CBS_pair_15
cd04803
4.9e-06
201
315
GuaB
COG0516
4.1e-60
368
592
IMPDH
pfam00478
1.4e-289
113
589
CBS
pfam00571
1.1e-05
195
254
CBS
pfam00571
1.9e-08
260
318
CBS
smart00116
5.7e-12
202
253
CBS
smart00116
4.3e-10
269
317
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
OMIM
146690.0003
Disease
p.ARG224PRO
RETINITIS PIGMENTOSA 10
OMIM
146690.0004
Disease
p.ARG105TRP
LEBER CONGENITAL AMAUROSIS 11
OMIM
146690.0005
Disease
p.ASN198LYS
LEBER CONGENITAL AMAUROSIS 11
OMIM
146690.0001
Disease
p.ASP226ASN
RETINITIS PIGMENTOSA 10
OMIM
146690.0002
Disease
p.VAL268ILE
RETINITIS PIGMENTOSA 10
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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