Results for the protein: NP

Results for the Protein: NP_001136047

217035150

3614

IMPDH1

NCBI

inosine-5'-monophosphate dehydrogenase 1 isoform g [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	1.1e-255	29	468
TIM_phosphate_bindin	cd04722	6.1e-14	37	363
COG0517	COG0517	5.5e-24	79	203
CBS_pair_BON_assoc	cd04586	2.5e-05	90	205
CBS_pair_IMPDH	cd04601	8.4e-22	90	205
CBS_pair_IMPDH_2	cd04602	1.2e-72	90	205
CBS_pair_MET2_assoc	cd04605	0.0002	90	205
CBS_pair	cd02205	2.8e-19	91	205
CBS_pair_ACT_assoc	cd04584	8.6e-07	91	205
CBS_pair_ACT_assoc2	cd04585	6.8e-05	91	205
CBS_pair_CAP-ED_DUF2	cd04587	8.1e-05	91	205
CBS_pair_CAP-ED_DUF2	cd04588	0.00026	91	204
CBS_pair_DHH_polyA_P	cd04595	0.00063	91	205
CBS_pair_GGDEF_assoc	cd04599	4.8e-06	91	205
CBS_pair_HPP_assoc	cd04600	0.00078	91	205
CBS_pair_PALP_assoc2	cd04609	6e-05	91	205
CBS_pair_ParBc_assoc	cd04610	8e-07	91	205
CBS_pair_PAS_GGDEF_D	cd04611	0.00024	91	205
CBS_pair_SpoIVFB_Eri	cd04612	8.8e-08	91	205
CBS_pair_SpoIVFB_Eri	cd04613	0.00089	91	205
CBS_pair_8	cd04621	0.00026	91	205
CBS_pair_9	cd04622	5e-05	91	205
CBS_pair_10	cd04623	2.4e-05	91	205
CBS_pair_18	cd04631	7.5e-07	91	205
CBS_pair_20	cd04633	1.3e-05	91	205
CBS_pair_21	cd04634	0.001	91	205
CBS_pair_22	cd04635	0.0003	91	205
CBS_pair_23	cd04636	4.8e-05	91	205
CBS_pair_25	cd04638	3.6e-05	91	205
CBS_pair_CAP-ED_DUF2	cd04800	1.9e-06	91	205
CBS_pair_M50_like	cd04801	9.2e-05	91	205
CBS_pair_3	cd04802	5.3e-05	91	205
CBS_pair_15	cd04803	4.9e-06	91	205
GuaB	COG0516	4.1e-60	258	482
IMPDH	pfam00478	1.1e-258	28	479
CBS	pfam00571	1.1e-05	85	144
CBS	pfam00571	1.9e-08	150	208
CBS	smart00116	5.7e-12	92	143
CBS	smart00116	4.3e-10	159	207

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	146690.0003	Disease	p.ARG114PRO	RETINITIS PIGMENTOSA 10
OMIM	146690.0004	Disease	p.ARG20TRP	LEBER CONGENITAL AMAUROSIS 11
OMIM	146690.0005	Disease	p.ASN88LYS	LEBER CONGENITAL AMAUROSIS 11
OMIM	146690.0001	Disease	p.ASP116ASN	RETINITIS PIGMENTOSA 10
OMIM	146690.0002	Disease	p.VAL158ILE	RETINITIS PIGMENTOSA 10

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