Results for the protein: NP

Results for the Protein: NP_001096075

156616279

3614

IMPDH1

NCBI

inosine-5'-monophosphate dehydrogenase 1 isoform c [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	4e-290	104	568
TIM_phosphate_bindin	cd04722	1.3e-17	140	463
COG0517	COG0517	1.4e-25	179	303
CBS_pair_BON_assoc	cd04586	2.5e-05	190	305
CBS_pair_IMPDH	cd04601	8.4e-22	190	305
CBS_pair_IMPDH_2	cd04602	1.2e-72	190	305
CBS_pair_MET2_assoc	cd04605	0.0002	190	305
CBS_pair	cd02205	2.8e-19	191	305
CBS_pair_ACT_assoc	cd04584	8.6e-07	191	305
CBS_pair_ACT_assoc2	cd04585	6.8e-05	191	305
CBS_pair_CAP-ED_DUF2	cd04587	8.1e-05	191	305
CBS_pair_CAP-ED_DUF2	cd04588	0.00026	191	304
CBS_pair_DHH_polyA_P	cd04595	0.00063	191	305
CBS_pair_GGDEF_assoc	cd04599	4.8e-06	191	305
CBS_pair_HPP_assoc	cd04600	0.00078	191	305
CBS_pair_PALP_assoc2	cd04609	6e-05	191	305
CBS_pair_ParBc_assoc	cd04610	8e-07	191	305
CBS_pair_PAS_GGDEF_D	cd04611	0.00024	191	305
CBS_pair_SpoIVFB_Eri	cd04612	8.8e-08	191	305
CBS_pair_SpoIVFB_Eri	cd04613	0.00089	191	305
CBS_pair_8	cd04621	0.00026	191	305
CBS_pair_9	cd04622	5e-05	191	305
CBS_pair_10	cd04623	2.4e-05	191	305
CBS_pair_18	cd04631	7.5e-07	191	305
CBS_pair_20	cd04633	1.3e-05	191	305
CBS_pair_21	cd04634	0.001	191	305
CBS_pair_22	cd04635	0.0003	191	305
CBS_pair_23	cd04636	4.8e-05	191	305
CBS_pair_25	cd04638	3.6e-05	191	305
CBS_pair_CAP-ED_DUF2	cd04800	1.9e-06	191	305
CBS_pair_M50_like	cd04801	9.2e-05	191	305
CBS_pair_3	cd04802	5.3e-05	191	305
CBS_pair_15	cd04803	4.9e-06	191	305
GuaB	COG0516	4.1e-60	358	582
IMPDH	pfam00478	1.4e-289	103	579
CBS	pfam00571	1.1e-05	185	244
CBS	pfam00571	1.9e-08	250	308
CBS	smart00116	5.7e-12	192	243
CBS	smart00116	4.3e-10	259	307

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	146690.0003	Disease	p.ARG214PRO	RETINITIS PIGMENTOSA 10
OMIM	146690.0004	Disease	p.ARG95TRP	LEBER CONGENITAL AMAUROSIS 11
OMIM	146690.0005	Disease	p.ASN188LYS	LEBER CONGENITAL AMAUROSIS 11
OMIM	146690.0001	Disease	p.ASP216ASN	RETINITIS PIGMENTOSA 10
OMIM	146690.0002	Disease	p.VAL258ILE	RETINITIS PIGMENTOSA 10

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