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Results for the Protein: Q00604
548342
NDP

NDP_HUMAN RecName: Full=Norrin; AltName: Full=Norrie disease protein; AltName: Full=X-linked exudative vitreoretinopathy 2 protein; Flags: Precursor

Known Diseases associated with this Protein:
  EXUDATIVE VITREORETINOPATHY 2, X-LINKED
  EXUDATIVE VITREORETINOPATHY, X-LINKED
  NORRIE DISEASE
  NORRIE DISEASE (ND)
  VITREORETINOPATHY, EXUDATIVE 2 (EVR2)
76
4
19
1
60
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CT - smart00041


Swiss-Prot Protein: Q00604
Identical to: NP_000257
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CTsmart000414.1e-2943132

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_064023Diseasep.ALA118ASPNorrie disease (ND)
Swiss-ProtVAR_005487Diseasep.ALA63ASPNorrie disease (ND)
Swiss-ProtVAR_016050Diseasep.ALA105THRNorrie disease (ND)
Swiss-ProtVAR_063999Diseasep.ARG38CYSVitreoretinopathy, exudative 2 (EVR2)
Swiss-ProtVAR_005491Diseasep.ARG74CYSNorrie disease (ND)
Swiss-ProtVAR_064011Diseasep.ARG90CYSNorrie disease (ND)
Swiss-ProtVAR_005501Diseasep.ARG121GLNVitreoretinopathy, exudative 2 (EVR2)
Swiss-ProtVAR_005500Diseasep.ARG121GLYVitreoretinopathy, exudative 2 (EVR2)
Swiss-ProtVAR_064022Diseasep.ARG115LEUVitreoretinopathy, exudative 2 (EVR2)
Swiss-ProtVAR_064024Diseasep.ARG121LEUVitreoretinopathy, exudative 2 (EVR2)
Swiss-ProtVAR_005480Diseasep.ARG41LYSVitreoretinopathy, exudative 2 (EVR2)
dbSNPrs1126911 Polymorphismp.ARG64METN/A
Swiss-ProtVAR_005494Diseasep.ARG90PRONorrie disease (ND)
Swiss-ProtVAR_064015Diseasep.ARG97PRONorrie disease (ND)
Swiss-ProtVAR_064000Polymorphismp.ARG41SERN/A
Swiss-ProtVAR_005502Diseasep.ARG121TRPVitreoretinopathy, exudative 2 (EVR2)
Swiss-ProtVAR_034137Polymorphismp.ASP23GLUN/A
Swiss-ProtVAR_064020Diseasep.CYS110ARGNorrie disease (ND)
Swiss-ProtVAR_064026Diseasep.CYS128ARGNorrie disease (ND)
Swiss-ProtVAR_005479Diseasep.CYS39ARGNorrie disease (ND)
Swiss-ProtVAR_064006Diseasep.CYS55ARGNorrie disease (ND)
Swiss-ProtVAR_064014Diseasep.CYS95ARGNorrie disease (ND)
Swiss-ProtVAR_016051Diseasep.CYS110GLYNorrie disease (ND)
Swiss-ProtVAR_064013Diseasep.CYS95PHENorrie disease (ND)
Swiss-ProtVAR_064025Diseasep.CYS126SERNorrie disease (ND)
Swiss-ProtVAR_005489Diseasep.CYS69SERNorrie disease (ND)
Swiss-ProtVAR_005490Diseasep.CYS65TRPNorrie disease (ND)
Swiss-ProtVAR_009275Diseasep.CYS96TRPNorrie disease (ND)
Swiss-ProtVAR_005488Diseasep.CYS65TYRNorrie disease (ND)
Swiss-ProtVAR_005496Diseasep.CYS96TYRNorrie disease (ND)
Swiss-ProtVAR_064009Diseasep.GLY67ARGNorrie disease (ND)
Swiss-ProtVAR_064021Diseasep.GLY112GLUNorrie disease (ND)
Swiss-ProtVAR_064008Diseasep.GLY67GLUNorrie disease (ND)
Swiss-ProtVAR_005481Diseasep.HIS42ARGVitreoretinopathy, exudative 2 (EVR2)
Swiss-ProtVAR_064002Diseasep.HIS43ARGNorrie disease (ND)
Swiss-ProtVAR_064001Diseasep.HIS43GLNNorrie disease (ND)
Swiss-ProtVAR_005504Diseasep.ILE123ASNNorrie disease (ND)
Swiss-ProtVAR_063998Diseasep.ILE18LYSVitreoretinopathy, exudative 2 (EVR2)
Swiss-ProtVAR_005478Diseasep.LEU13ARGNorrie disease (ND)
Swiss-ProtVAR_064007Diseasep.LEU61ILEVitreoretinopathy, exudative 2 (EVR2)
Swiss-ProtVAR_005505Diseasep.LEU124PHEVitreoretinopathy, exudative 2 (EVR2)
Swiss-ProtVAR_005485Diseasep.LEU61PHENorrie disease (ND)
Swiss-ProtVAR_064019Polymorphismp.LEU108PRON/A
Swiss-ProtVAR_016048Diseasep.LEU16PRONorrie disease (ND)
Swiss-ProtVAR_005486Diseasep.LEU61PRONorrie disease (ND)
Swiss-ProtVAR_064017Diseasep.LEU103VALVitreoretinopathy, exudative 2 (EVR2)
Swiss-ProtVAR_064018Diseasep.LYS104ASNNorrie disease (ND)
Swiss-ProtVAR_064005Diseasep.LYS54ASNVitreoretinopathy, exudative 2 (EVR2)
Swiss-ProtVAR_005483Diseasep.LYS58ASNVitreoretinopathy, exudative 2 (EVR2)
Swiss-ProtVAR_005498Diseasep.LYS104GLNNorrie disease (ND)
Swiss-ProtVAR_064010Diseasep.PHE89LEUNorrie disease (ND)
Swiss-ProtVAR_064016Diseasep.PRO98LEUNorrie disease (ND)
Swiss-ProtVAR_005492Diseasep.SER75CYSNorrie disease (ND)
Swiss-ProtVAR_005497Diseasep.SER101PHENorrie disease (ND)
Swiss-ProtVAR_016049Diseasep.SER75PRONorrie disease (ND)
Swiss-ProtVAR_064012Diseasep.SER92PRONorrie disease (ND)
Swiss-ProtVAR_005499Diseasep.TYR120CYSVitreoretinopathy, exudative 2 (EVR2)
Swiss-ProtVAR_005482Diseasep.TYR44CYSNorrie disease (ND)
Swiss-ProtVAR_064003Diseasep.VAL45GLUNorrie disease (ND)
Swiss-ProtVAR_005484Diseasep.VAL60GLUNorrie disease (ND)
Swiss-ProtVAR_064004Diseasep.VAL45METNorrie disease (ND)
OMIM300658.0015 Diseasep.ALA105THRNORRIE DISEASE
OMIM300658.0017 Diseasep.ARG121LEUEXUDATIVE VITREORETINOPATHY 2, X-LINKED
OMIM300658.0001 Diseasep.ARG90PRONORRIE DISEASE
OMIM300658.0010 Diseasep.ARG121TRPEXUDATIVE VITREORETINOPATHY 2, X-LINKED
OMIM300658.0016 Diseasep.CYS110GLYEXUDATIVE VITREORETINOPATHY 2, X-LINKED
OMIM300658.0007 Diseasep.CYS69SERNORRIE DISEASE
OMIM300658.0008 Diseasep.CYS128TERNORRIE DISEASE
OMIM300658.0018 Diseasep.CYS96TRPNORRIE DISEASE
OMIM300658.0005 Diseasep.CYS96TYRNORRIE DISEASE
OMIM300658.0013 Diseasep.HIS42ARGEXUDATIVE VITREORETINOPATHY, X-LINKED
OMIM300658.0011 Diseasep.LEU13ARGNORRIE DISEASE
OMIM300658.0006 Diseasep.LEU124PHEEXUDATIVE VITREORETINOPATHY 2, X-LINKED
OMIM300658.0012 Diseasep.LEU61PHENORRIE DISEASE
OMIM300658.0002 Diseasep.SER75CYSNORRIE DISEASE
OMIM300658.0021 Diseasep.SER101PHENORRIE DISEASE
OMIM300658.0020 Diseasep.SER73TERNORRIE DISEASE
OMIM300658.0004 Diseasep.TYR44CYSNORRIE DISEASE
OMIM300658.0019 Diseasep.VAL45GLUNORRIE DISEASE
OMIM300658.0003 Diseasep.VAL60GLUNORRIE DISEASE



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