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Results for the Protein: Q5JU85
74742276

IQEC2_HUMAN RecName: Full=IQ motif and SEC7 domain-containing protein 2

Known Diseases associated with this Protein:
  MENTAL RETARDATION, X-LINKED 1 (MRX1)
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4
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Default View:

Sec7 - smart00222
Sec7 - cd00171
Sec7 - pfam01369
PH - smart00233
PH - cd00821


Swiss-Prot Protein: Q5JU85
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Sec7cd001719.4e-95743931
PHcd008211.4e-059641069
Sec7pfam013691e-83743931
Sec7smart002227.8e-88742931
PHsmart002330.000619621071

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063742Diseasep.ARG349CYSMental retardation, X-linked 1 (MRX1)
Swiss-ProtVAR_063743Diseasep.ARG748GLNMental retardation, X-linked 1 (MRX1)
Swiss-ProtVAR_063745Diseasep.ARG853TRPMental retardation, X-linked 1 (MRX1)
Swiss-ProtVAR_063744Diseasep.GLN791PROMental retardation, X-linked 1 (MRX1)



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