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Results for the Protein: P20839
25014074

IMDH1_HUMAN RecName: Full=Inosine-5'-monophosphate dehydrogenase 1; Short=IMP dehydrogenase 1; Short=IMPD 1; Short=IMPDH 1; AltName: Full=IMPDH-I

Known Diseases associated with this Protein:
  LEBER CONGENITAL AMAUROSIS 11
  LEBER CONGENITAL AMAUROSIS 11 (LCA11)
  RETINITIS PIGMENTOSA 10
  RETINITIS PIGMENTOSA 10 (RP10)
12
2
5
0
9
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_10 - cd04623
CBS_pair_22 - cd04635
CBS_pair_18 - cd04631
CBS_pair_15 - cd04803
CBS_pair_3 - cd04802
CBS_pair_9 - cd04622
CBS_pair_M50_like - cd04801
CBS_pair_CAP-ED_DUF2 - cd04800
CBS_pair_25 - cd04638
CBS_pair_23 - cd04636
CBS_pair_SpoIVFB_Eri - cd04612
CBS_pair_CAP-ED_DUF2 - cd04588
CBS_pair_8 - cd04621
CBS_pair_CAP-ED_DUF2 - cd04587
CBS_pair_ACT_assoc - cd04584
CBS_pair - cd02205
CBS_pair_GGDEF_assoc - cd04599
CBS_pair_DHH_polyA_P - cd04595
CBS_pair_PAS_GGDEF_D - cd04611
CBS_pair_SpoIVFB_Eri - cd04613
CBS_pair_ParBc_assoc - cd04610
CBS_pair_HPP_assoc - cd04600
CBS_pair_ACT_assoc2 - cd04585
CBS_pair_PALP_assoc2 - cd04609
CBS - smart00116


Swiss-Prot Protein: P20839
Identical to: NP_001136045
   Default View:







































Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IMPDHcd003814e-29029493
TIM_phosphate_bindincd047221.3e-1765388
COG0517COG05171.4e-25104228
CBS_pair_BON_assoccd045862.5e-05115230
CBS_pair_IMPDHcd046018.4e-22115230
CBS_pair_IMPDH_2cd046021.2e-72115230
CBS_pair_MET2_assoccd046050.0002115230
CBS_paircd022052.8e-19116230
CBS_pair_ACT_assoccd045848.6e-07116230
CBS_pair_CAP-ED_DUF2cd045878.1e-05116230
CBS_pair_CAP-ED_DUF2cd045880.00026116229
CBS_pair_DHH_polyA_Pcd045950.00063116230
CBS_pair_GGDEF_assoccd045994.8e-06116230
CBS_pair_HPP_assoccd046000.00078116230
CBS_pair_PALP_assoc2cd046096e-05116230
CBS_pair_ACT_assoc2cd045856.8e-05116230
CBS_pair_ParBc_assoccd046108e-07116230
CBS_pair_PAS_GGDEF_Dcd046110.00024116230
CBS_pair_SpoIVFB_Ericd046128.8e-08116230
CBS_pair_SpoIVFB_Ericd046130.00089116230
CBS_pair_8cd046210.00026116230
CBS_pair_9cd046225e-05116230
CBS_pair_10cd046232.4e-05116230
CBS_pair_18cd046317.5e-07116230
CBS_pair_20cd046331.3e-05116230
CBS_pair_21cd046340.001116230
CBS_pair_22cd046350.0003116230
CBS_pair_23cd046364.8e-05116230
CBS_pair_25cd046383.6e-05116230
CBS_pair_CAP-ED_DUF2cd048001.9e-06116230
CBS_pair_M50_likecd048019.2e-05116230
CBS_pair_3cd048025.3e-05116230
CBS_pair_15cd048034.9e-06116230
GuaBCOG05164.1e-60283507
IMPDHpfam004781.4e-28928504
CBSpfam005711.1e-05110169
CBSpfam005711.9e-08175233
CBSsmart001165.7e-12117168
CBSsmart001164.3e-10184232

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065619Polymorphismp.ALA285THRN/A
Swiss-ProtVAR_017031Diseasep.ARG224PRORetinitis pigmentosa 10 (RP10)
Swiss-ProtVAR_065616Diseasep.ARG105TRPLeber congenital amaurosis 11 (LCA11)
Swiss-ProtVAR_065618Diseasep.ASN198LYSLeber congenital amaurosis 11 (LCA11)
Swiss-ProtVAR_017032Diseasep.ASP226ASNRetinitis pigmentosa 10 (RP10)
Swiss-ProtVAR_065620Polymorphismp.GLY324ASPN/A
Swiss-ProtVAR_065621Diseasep.HIS372PRORetinitis pigmentosa 10 (RP10)
Swiss-ProtVAR_065617Diseasep.THR116METRetinitis pigmentosa 10 (RP10)
Swiss-ProtVAR_017033Diseasep.VAL268ILERetinitis pigmentosa 10 (RP10)
OMIM146690.0003 Diseasep.ARG139PRORETINITIS PIGMENTOSA 10
OMIM146690.0004 Diseasep.ARG20TRPLEBER CONGENITAL AMAUROSIS 11
OMIM146690.0005 Diseasep.ASN113LYSLEBER CONGENITAL AMAUROSIS 11
OMIM146690.0001 Diseasep.ASP141ASNRETINITIS PIGMENTOSA 10
OMIM146690.0002 Diseasep.VAL183ILERETINITIS PIGMENTOSA 10



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