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Results for the Protein: O60832
3913488

DKC1_HUMAN RecName: Full=H/ACA ribonucleoprotein complex subunit 4; AltName: Full=CBF5 homolog; AltName: Full=Dyskerin; AltName: Full=Nopp140-associated protein of 57 kDa; AltName: Full=Nucleolar protein NAP57; AltName: Full=Nucleolar protein family A member 4; AltName: Full=snoRNP protein DKC1

Known Diseases associated with this Protein:
  DYSKERATOSIS CONGENITA, X-LINKED
  DYSKERATOSIS CONGENITA, X-LINKED (DKCX)
  HOYERAAL-HREIDARSSON SYNDROME (HHS)
32
1
10
0
23
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Default View:

DKCLD - pfam08068
TruB - COG0130
PseudoU_synth_hDyske - cd02572
PseudoU_synth_TruB_l - cd00506
PseudoU_synth_EcTruB - cd02573
PseudoU_synth - cd01291
TruB_N - pfam01509
PUA - smart00359
PUA - pfam01472


Swiss-Prot Protein: O60832
Identical to: NP_001354
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PseudoU_synth_hDyskecd025727.3e-14788270
PseudoU_synth_TruB_lcd005061.4e-10390266
PseudoU_synth_EcTruBcd025733.6e-2190348
PseudoU_synthcd012911e-0794234
TruB_Npfam015094.7e-35110226
PUApfam014721.3e-23297370
DKCLDpfam080689.8e-4048106
PUAsmart003591.9e-21297371

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_010076Diseasep.ALA2VALDyskeratosis congenita, X-linked (DKCX)
Swiss-ProtVAR_009264Diseasep.ALA353VALHoyeraal-Hreidarsson syndrome (HHS)
Swiss-ProtVAR_063824Diseasep.ARG322GLNDyskeratosis congenita, X-linked (DKCX)
Swiss-ProtVAR_010079Diseasep.ARG65THRDyskeratosis congenita, X-linked (DKCX)
Swiss-ProtVAR_010078Diseasep.GLU41LYSDyskeratosis congenita, X-linked (DKCX)
Swiss-ProtVAR_010084Diseasep.GLY402ARGDyskeratosis congenita, X-linked (DKCX)
Swiss-ProtVAR_022553Polymorphismp.GLY223ASPN/A
Swiss-ProtVAR_006815Diseasep.GLY402GLUDyskeratosis congenita, X-linked (DKCX)
Swiss-ProtVAR_015674Diseasep.ILE38THRHoyeraal-Hreidarsson syndrome (HHS)
Swiss-ProtVAR_063823Diseasep.LEU317PHEDyskeratosis congenita, X-linked (DKCX)
Swiss-ProtVAR_063822Diseasep.LEU72PHEDyskeratosis congenita, X-linked (DKCX)
Swiss-ProtVAR_063821Diseasep.LEU56SERDyskeratosis congenita, X-linked (DKCX)
Swiss-ProtVAR_006814Diseasep.LEU72TYRDyskeratosis congenita, X-linked (DKCX)
Swiss-ProtVAR_010081Diseasep.LEU321VALDyskeratosis congenita, X-linked (DKCX)
Swiss-ProtVAR_010077Diseasep.LYS39GLUDyskeratosis congenita, X-linked (DKCX)
Swiss-ProtVAR_010082Diseasep.MET350ILEDyskeratosis congenita, X-linked (DKCX)
Swiss-ProtVAR_010083Diseasep.MET350THRDyskeratosis congenita, X-linked (DKCX)
Swiss-ProtVAR_006811Diseasep.PHE36VALDyskeratosis congenita, X-linked (DKCX)
Swiss-ProtVAR_006813Diseasep.PRO40ARGDyskeratosis congenita, X-linked (DKCX)
Swiss-ProtVAR_063825Diseasep.PRO409LEUDyskeratosis congenita, X-linked (DKCX)
Swiss-ProtVAR_015676Diseasep.SER121GLYHoyeraal-Hreidarsson syndrome (HHS)
Swiss-ProtVAR_010080Diseasep.THR66ALADyskeratosis congenita, X-linked (DKCX)
Swiss-ProtVAR_015675Diseasep.THR49METHoyeraal-Hreidarsson syndrome (HHS)
OMIM300126.0006 Diseasep.ALA353VALDYSKERATOSIS CONGENITA, X-LINKED
OMIM300126.0013 Diseasep.GLN31LYSDYSKERATOSIS CONGENITA, X-LINKED
OMIM300126.0005 Diseasep.GLY402GLUDYSKERATOSIS CONGENITA, X-LINKED
OMIM300126.0012 Diseasep.ILE38THRDYSKERATOSIS CONGENITA, X-LINKED
OMIM300126.0004 Diseasep.LEU72TYRDYSKERATOSIS CONGENITA, X-LINKED
OMIM300126.0001 Diseasep.PHE36VALDYSKERATOSIS CONGENITA, X-LINKED
OMIM300126.0003 Diseasep.PRO40ARGDYSKERATOSIS CONGENITA, X-LINKED
OMIM300126.0011 Diseasep.SER121GLYDYSKERATOSIS CONGENITA, X-LINKED
OMIM300126.0014 Diseasep.THR357ALADYSKERATOSIS CONGENITA, X-LINKED
OMIM300126.0010 Diseasep.THR49METDYSKERATOSIS CONGENITA, X-LINKED



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