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Results for the Protein: Q96QS3
27923733
ARX

ARX_HUMAN RecName: Full=Homeobox protein ARX; AltName: Full=Aristaless-related homeobox

Known Diseases associated with this Protein:
  AGENESIS OF THE CORPUS CALLOSUM, WITH ABNORMAL GENITALIA (ACCAG)
  CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 (EIEE1)
  HYDRANENCEPHALY WITH ABNORMAL GENITALIA
  LISSENCEPHALY, X-LINKED 2 (LISX2)
  LISSENCEPHALY, X-LINKED, 2
  MENTAL RETARDATION, X-LINKED, ARX-RELATED (MRXARX)
  MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED
20
0
11
0
9
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Default View:

COG5576 - COG5576
HOX - smart00389
Homeobox - pfam00046
homeodomain - cd00086
OAR - pfam03826


Swiss-Prot Protein: Q96QS3
Identical to: NP_620689
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
homeodomaincd000863.9e-29329387
COG5576COG55769.6e-06284428
Homeoboxpfam000465.2e-35329385
OARpfam038261.7e-08525545
HOXsmart003894.8e-29329384

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_033263Diseasep.ALA521THRLissencephaly, X-linked 2 (LISX2)
Swiss-ProtVAR_015178Diseasep.ARG332HISLissencephaly, X-linked 2 (LISX2)
Swiss-ProtVAR_033260Diseasep.ARG332PROLissencephaly, X-linked 2 (LISX2)
Swiss-ProtVAR_015671Diseasep.GLY286SERMental retardation, X-linked, ARX-related (MRXARX)
Swiss-ProtVAR_015179Diseasep.LEU343GLNLissencephaly, X-linked 2 (LISX2)
Swiss-ProtVAR_015669Diseasep.LEU33PROMental retardation, X-linked, ARX-related (MRXARX)
Swiss-ProtVAR_033262Diseasep.PRO353ARGLissencephaly, X-linked 2 (LISX2)
Swiss-ProtVAR_015180Diseasep.PRO353LEUEpileptic encephalopathy, early infantile, 1 (EIEE1)
Swiss-ProtVAR_033261Diseasep.THR333ASNAgenesis of the corpus callosum, with abnormal genitalia (ACCAG)
OMIM300382.0007 Diseasep.ARG332HISLISSENCEPHALY, X-LINKED, 2
OMIM300382.0008 Diseasep.GLN373TERLISSENCEPHALY, X-LINKED, 2
OMIM300382.0016 Diseasep.GLU369TERHYDRANENCEPHALY WITH ABNORMAL GENITALIA
OMIM300382.0020 Diseasep.GLU78TERLISSENCEPHALY, X-LINKED, 2
OMIM300382.0014 Diseasep.GLY286SERMENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED
OMIM300382.0012 Diseasep.LEU343GLNLISSENCEPHALY, X-LINKED, 2
OMIM300382.0024 Diseasep.LEU535GLNEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
OMIM300382.0013 Diseasep.LEU33PROMENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED
OMIM300382.0003 Diseasep.PRO353LEUEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
OMIM300382.0015 Diseasep.THR333ASNCORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA
OMIM300382.0023 Diseasep.TYR27TEREPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1



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