Results for the protein: NP

Results for the Protein: NP_001136048

217035152

3614

IMPDH1

NCBI

inosine-5'-monophosphate dehydrogenase 1 isoform d [Homo sapiens]

Known Diseases associated with this Protein:
LEBER CONGENITAL AMAUROSIS 11
RETINITIS PIGMENTOSA 10

5

0

5

0

0

Tips:

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Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IMPDH	cd00381	2.9e-282	86	545
TIM_phosphate_bindin	cd04722	1.3e-17	117	440
COG0517	COG0517	1.4e-25	156	280
CBS_pair_BON_assoc	cd04586	2.5e-05	167	282
CBS_pair_IMPDH	cd04601	8.4e-22	167	282
CBS_pair_IMPDH_2	cd04602	1.2e-72	167	282
CBS_pair_MET2_assoc	cd04605	0.0002	167	282
CBS_pair	cd02205	2.8e-19	168	282
CBS_pair_ACT_assoc	cd04584	8.6e-07	168	282
CBS_pair_ACT_assoc2	cd04585	6.8e-05	168	282
CBS_pair_CAP-ED_DUF2	cd04587	8.1e-05	168	282
CBS_pair_CAP-ED_DUF2	cd04588	0.00026	168	281
CBS_pair_DHH_polyA_P	cd04595	0.00063	168	282
CBS_pair_GGDEF_assoc	cd04599	4.8e-06	168	282
CBS_pair_HPP_assoc	cd04600	0.00078	168	282
CBS_pair_ParBc_assoc	cd04610	8e-07	168	282
CBS_pair_PAS_GGDEF_D	cd04611	0.00024	168	282
CBS_pair_SpoIVFB_Eri	cd04612	8.8e-08	168	282
CBS_pair_SpoIVFB_Eri	cd04613	0.00089	168	282
CBS_pair_PALP_assoc2	cd04609	6e-05	168	282
CBS_pair_8	cd04621	0.00026	168	282
CBS_pair_9	cd04622	5e-05	168	282
CBS_pair_10	cd04623	2.4e-05	168	282
CBS_pair_18	cd04631	7.5e-07	168	282
CBS_pair_20	cd04633	1.3e-05	168	282
CBS_pair_21	cd04634	0.001	168	282
CBS_pair_22	cd04635	0.0003	168	282
CBS_pair_23	cd04636	4.8e-05	168	282
CBS_pair_25	cd04638	3.6e-05	168	282
CBS_pair_CAP-ED_DUF2	cd04800	1.9e-06	168	282
CBS_pair_M50_like	cd04801	9.2e-05	168	282
CBS_pair_3	cd04802	5.3e-05	168	282
CBS_pair_15	cd04803	4.9e-06	168	282
GuaB	COG0516	4.1e-60	335	559
IMPDH	pfam00478	1.2e-281	85	556
CBS	pfam00571	1.1e-05	162	221
CBS	pfam00571	1.9e-08	227	285
CBS	smart00116	5.7e-12	169	220
CBS	smart00116	4.3e-10	236	284

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	146690.0003	Disease	p.ARG191PRO	RETINITIS PIGMENTOSA 10
OMIM	146690.0004	Disease	p.ARG1TRP	LEBER CONGENITAL AMAUROSIS 11
OMIM	146690.0005	Disease	p.ASN165LYS	LEBER CONGENITAL AMAUROSIS 11
OMIM	146690.0001	Disease	p.ASP193ASN	RETINITIS PIGMENTOSA 10
OMIM	146690.0002	Disease	p.VAL235ILE	RETINITIS PIGMENTOSA 10

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