Results for the protein: NP

Results for the Protein: NP_001136046

217035148

3614

IMPDH1

NCBI

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

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

5

0

5

0

0

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Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IMPDH	cd00381	2.8e-280	29	488
TIM_phosphate_bindin	cd04722	9.2e-18	65	383
COG0517	COG0517	1.5e-23	99	223
CBS_pair_BON_assoc	cd04586	2.5e-05	110	225
CBS_pair_IMPDH	cd04601	8.4e-22	110	225
CBS_pair_IMPDH_2	cd04602	1.2e-72	110	225
CBS_pair_MET2_assoc	cd04605	0.0002	110	225
CBS_pair	cd02205	2.8e-19	111	225
CBS_pair_ACT_assoc	cd04584	8.6e-07	111	225
CBS_pair_ACT_assoc2	cd04585	6.8e-05	111	225
CBS_pair_CAP-ED_DUF2	cd04587	8.1e-05	111	225
CBS_pair_CAP-ED_DUF2	cd04588	0.00026	111	224
CBS_pair_DHH_polyA_P	cd04595	0.00063	111	225
CBS_pair_GGDEF_assoc	cd04599	4.8e-06	111	225
CBS_pair_HPP_assoc	cd04600	0.00078	111	225
CBS_pair_PALP_assoc2	cd04609	6e-05	111	225
CBS_pair_ParBc_assoc	cd04610	8e-07	111	225
CBS_pair_PAS_GGDEF_D	cd04611	0.00024	111	225
CBS_pair_SpoIVFB_Eri	cd04612	8.8e-08	111	225
CBS_pair_SpoIVFB_Eri	cd04613	0.00089	111	225
CBS_pair_8	cd04621	0.00026	111	225
CBS_pair_9	cd04622	5e-05	111	225
CBS_pair_10	cd04623	2.4e-05	111	225
CBS_pair_18	cd04631	7.5e-07	111	225
CBS_pair_20	cd04633	1.3e-05	111	225
CBS_pair_21	cd04634	0.001	111	225
CBS_pair_22	cd04635	0.0003	111	225
CBS_pair_23	cd04636	4.8e-05	111	225
CBS_pair_25	cd04638	3.6e-05	111	225
CBS_pair_CAP-ED_DUF2	cd04800	1.9e-06	111	225
CBS_pair_M50_like	cd04801	9.2e-05	111	225
CBS_pair_3	cd04802	5.3e-05	111	225
CBS_pair_15	cd04803	4.9e-06	111	225
GuaB	COG0516	4.1e-60	278	502
IMPDH	pfam00478	1.8e-282	28	499
CBS	pfam00571	1.1e-05	105	164
CBS	pfam00571	1.9e-08	170	228
CBS	smart00116	5.7e-12	112	163
CBS	smart00116	4.3e-10	179	227

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	146690.0003	Disease	p.ARG134PRO	RETINITIS PIGMENTOSA 10
OMIM	146690.0004	Disease	p.ARG20TRP	LEBER CONGENITAL AMAUROSIS 11
OMIM	146690.0005	Disease	p.ASN108LYS	LEBER CONGENITAL AMAUROSIS 11
OMIM	146690.0001	Disease	p.ASP136ASN	RETINITIS PIGMENTOSA 10
OMIM	146690.0002	Disease	p.VAL178ILE	RETINITIS PIGMENTOSA 10

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