Results for the protein: P12268

Results for the Protein: P12268

124419

3615

IMPDH2

NCBI, UniProt

IMDH2_HUMAN RecName: Full=Inosine-5'-monophosphate dehydrogenase 2; Short=IMP dehydrogenase 2; Short=IMPD 2; Short=IMPDH 2; AltName: Full=IMPDH-II

Known Diseases associated with this Protein:
IMPDH2 ENZYME ACTIVITY, VARIATION IN

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Swiss-Prot Protein: P12268

Identical to: NP_000875

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IMPDH	cd00381	9.9e-294	29	493
TIM_phosphate_bindin	cd04722	1.8e-12	65	388
COG0517	COG0517	1.4e-23	104	228
CBS_pair_BON_assoc	cd04586	0.00028	115	230
CBS_pair_IMPDH	cd04601	3.3e-14	115	230
CBS_pair_IMPDH_2	cd04602	3.4e-71	115	230
CBS_pair	cd02205	6.6e-18	116	230
CBS_pair_ACT_assoc	cd04584	7.8e-08	116	230
CBS_pair_ACT_assoc2	cd04585	0.00015	116	230
CBS_pair_CAP-ED_DUF2	cd04588	0.00065	116	229
CBS_pair_DHH_polyA_P	cd04595	7.7e-05	116	230
CBS_pair_GGDEF_assoc	cd04599	5.2e-05	116	230
CBS_pair_HPP_assoc	cd04600	0.00068	116	230
CBS_pair_PALP_assoc2	cd04609	0.00068	116	230
CBS_pair_ParBc_assoc	cd04610	6.6e-07	116	230
CBS_pair_SpoIVFB_Eri	cd04612	5.9e-06	116	230
CBS_pair_SpoIVFB_Eri	cd04613	7.3e-05	116	230
CBS_pair_9	cd04622	0.00026	116	230
CBS_pair_10	cd04623	0.0001	116	230
CBS_pair_18	cd04631	4.6e-06	116	230
CBS_pair_20	cd04633	2.3e-05	116	230
CBS_pair_21	cd04634	0.00048	116	230
CBS_pair_22	cd04635	0.00017	116	230
CBS_pair_23	cd04636	5e-06	116	230
CBS_pair_24	cd04637	7.9e-05	116	230
CBS_pair_25	cd04638	0.00022	116	230
CBS_pair_M50_like	cd04801	0.00097	116	230
CBS_pair_3	cd04802	0.00097	116	230
CBS_pair_15	cd04803	2.8e-05	116	230
NPD_like	cd04730	0.00036	207	465
GuaB	COG0516	4.8e-65	283	507
IMPDH	pfam00478	6.1e-287	28	504
CBS	pfam00571	2.8e-11	175	233
CBS	smart00116	6.6e-07	117	168
CBS	smart00116	3.3e-10	184	232

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_070542	Polymorphism	p.LEU263PHE	N/A
OMIM	146691.0001	Disease	p.LEU263PHE	IMPDH2 ENZYME ACTIVITY, VARIATION IN

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.

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