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Results for the Protein: NP_000874
34328930

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

Known Diseases associated with this Protein:
  LEBER CONGENITAL AMAUROSIS 11
  RETINITIS PIGMENTOSA 10
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Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

GuaB - COG0516
IMPDH - pfam00478
IMPDH - cd00381
TIM_phosphate_bindin - cd04722
COG0517 - COG0517
CBS - pfam00571
CBS_pair_MET2_assoc - cd04605
CBS_pair_BON_assoc - cd04586
CBS_pair_IMPDH - cd04601
CBS_pair_IMPDH_2 - cd04602
CBS_pair_20 - cd04633
CBS_pair_21 - cd04634
CBS_pair_9 - cd04622
CBS_pair_22 - cd04635
CBS_pair_18 - cd04631
CBS_pair_15 - cd04803
CBS_pair_3 - cd04802
CBS_pair_10 - cd04623
CBS_pair_M50_like - cd04801
CBS_pair_CAP-ED_DUF2 - cd04800
CBS_pair_25 - cd04638
CBS_pair_23 - cd04636
CBS_pair_SpoIVFB_Eri - cd04613
CBS_pair_CAP-ED_DUF2 - cd04587
CBS_pair_SpoIVFB_Eri - cd04612
CBS_pair_ACT_assoc2 - cd04585
CBS_pair_ACT_assoc - cd04584
CBS_pair - cd02205
CBS_pair_DHH_polyA_P - cd04595
CBS_pair_CAP-ED_DUF2 - cd04588
CBS_pair_PAS_GGDEF_D - cd04611
CBS_pair_8 - cd04621
CBS_pair_ParBc_assoc - cd04610
CBS_pair_GGDEF_assoc - cd04599
CBS_pair_PALP_assoc2 - cd04609
CBS_pair_HPP_assoc - cd04600
CBS - smart00116


RefSeq Protein: NP_000874
   Default View:







































Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IMPDHcd003814e-290114578
TIM_phosphate_bindincd047221.3e-17150473
COG0517COG05171.4e-25189313
CBS_pair_BON_assoccd045862.5e-05200315
CBS_pair_IMPDHcd046018.4e-22200315
CBS_pair_IMPDH_2cd046021.2e-72200315
CBS_pair_MET2_assoccd046050.0002200315
CBS_paircd022052.8e-19201315
CBS_pair_ACT_assoccd045848.6e-07201315
CBS_pair_ACT_assoc2cd045856.8e-05201315
CBS_pair_CAP-ED_DUF2cd045878.1e-05201315
CBS_pair_CAP-ED_DUF2cd045880.00026201314
CBS_pair_DHH_polyA_Pcd045950.00063201315
CBS_pair_GGDEF_assoccd045994.8e-06201315
CBS_pair_HPP_assoccd046000.00078201315
CBS_pair_PALP_assoc2cd046096e-05201315
CBS_pair_ParBc_assoccd046108e-07201315
CBS_pair_PAS_GGDEF_Dcd046110.00024201315
CBS_pair_SpoIVFB_Ericd046130.00089201315
CBS_pair_8cd046210.00026201315
CBS_pair_SpoIVFB_Ericd046128.8e-08201315
CBS_pair_10cd046232.4e-05201315
CBS_pair_9cd046225e-05201315
CBS_pair_18cd046317.5e-07201315
CBS_pair_20cd046331.3e-05201315
CBS_pair_21cd046340.001201315
CBS_pair_22cd046350.0003201315
CBS_pair_23cd046364.8e-05201315
CBS_pair_25cd046383.6e-05201315
CBS_pair_CAP-ED_DUF2cd048001.9e-06201315
CBS_pair_M50_likecd048019.2e-05201315
CBS_pair_3cd048025.3e-05201315
CBS_pair_15cd048034.9e-06201315
GuaBCOG05164.1e-60368592
IMPDHpfam004781.4e-289113589
CBSpfam005711.1e-05195254
CBSpfam005711.9e-08260318
CBSsmart001165.7e-12202253
CBSsmart001164.3e-10269317

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM146690.0003 Diseasep.ARG224PRORETINITIS PIGMENTOSA 10
OMIM146690.0004 Diseasep.ARG105TRPLEBER CONGENITAL AMAUROSIS 11
OMIM146690.0005 Diseasep.ASN198LYSLEBER CONGENITAL AMAUROSIS 11
OMIM146690.0001 Diseasep.ASP226ASNRETINITIS PIGMENTOSA 10
OMIM146690.0002 Diseasep.VAL268ILERETINITIS PIGMENTOSA 10



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