Results for the protein: Q00604

Results for the Protein: Q00604

548342

4693

NDP

NCBI, UniProt

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)

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Default View: CT - smart00041	Swiss-Prot Protein: Q00604 Identical to: NP_000257 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_064023	Disease	p.ALA118ASP	Norrie disease (ND)
Swiss-Prot	VAR_005487	Disease	p.ALA63ASP	Norrie disease (ND)
Swiss-Prot	VAR_016050	Disease	p.ALA105THR	Norrie disease (ND)
Swiss-Prot	VAR_063999	Disease	p.ARG38CYS	Vitreoretinopathy, exudative 2 (EVR2)
Swiss-Prot	VAR_005491	Disease	p.ARG74CYS	Norrie disease (ND)
Swiss-Prot	VAR_064011	Disease	p.ARG90CYS	Norrie disease (ND)
Swiss-Prot	VAR_005501	Disease	p.ARG121GLN	Vitreoretinopathy, exudative 2 (EVR2)
Swiss-Prot	VAR_005500	Disease	p.ARG121GLY	Vitreoretinopathy, exudative 2 (EVR2)
Swiss-Prot	VAR_064022	Disease	p.ARG115LEU	Vitreoretinopathy, exudative 2 (EVR2)
Swiss-Prot	VAR_064024	Disease	p.ARG121LEU	Vitreoretinopathy, exudative 2 (EVR2)
Swiss-Prot	VAR_005480	Disease	p.ARG41LYS	Vitreoretinopathy, exudative 2 (EVR2)
dbSNP	rs1126911	Polymorphism	p.ARG64MET	N/A
Swiss-Prot	VAR_005494	Disease	p.ARG90PRO	Norrie disease (ND)
Swiss-Prot	VAR_064015	Disease	p.ARG97PRO	Norrie disease (ND)
Swiss-Prot	VAR_064000	Polymorphism	p.ARG41SER	N/A
Swiss-Prot	VAR_005502	Disease	p.ARG121TRP	Vitreoretinopathy, exudative 2 (EVR2)
Swiss-Prot	VAR_034137	Polymorphism	p.ASP23GLU	N/A
Swiss-Prot	VAR_064020	Disease	p.CYS110ARG	Norrie disease (ND)
Swiss-Prot	VAR_064026	Disease	p.CYS128ARG	Norrie disease (ND)
Swiss-Prot	VAR_005479	Disease	p.CYS39ARG	Norrie disease (ND)
Swiss-Prot	VAR_064006	Disease	p.CYS55ARG	Norrie disease (ND)
Swiss-Prot	VAR_064014	Disease	p.CYS95ARG	Norrie disease (ND)
Swiss-Prot	VAR_016051	Disease	p.CYS110GLY	Norrie disease (ND)
Swiss-Prot	VAR_064013	Disease	p.CYS95PHE	Norrie disease (ND)
Swiss-Prot	VAR_064025	Disease	p.CYS126SER	Norrie disease (ND)
Swiss-Prot	VAR_005489	Disease	p.CYS69SER	Norrie disease (ND)
Swiss-Prot	VAR_005490	Disease	p.CYS65TRP	Norrie disease (ND)
Swiss-Prot	VAR_009275	Disease	p.CYS96TRP	Norrie disease (ND)
Swiss-Prot	VAR_005488	Disease	p.CYS65TYR	Norrie disease (ND)
Swiss-Prot	VAR_005496	Disease	p.CYS96TYR	Norrie disease (ND)
Swiss-Prot	VAR_064009	Disease	p.GLY67ARG	Norrie disease (ND)
Swiss-Prot	VAR_064021	Disease	p.GLY112GLU	Norrie disease (ND)
Swiss-Prot	VAR_064008	Disease	p.GLY67GLU	Norrie disease (ND)
Swiss-Prot	VAR_005481	Disease	p.HIS42ARG	Vitreoretinopathy, exudative 2 (EVR2)
Swiss-Prot	VAR_064002	Disease	p.HIS43ARG	Norrie disease (ND)
Swiss-Prot	VAR_064001	Disease	p.HIS43GLN	Norrie disease (ND)
Swiss-Prot	VAR_005504	Disease	p.ILE123ASN	Norrie disease (ND)
Swiss-Prot	VAR_063998	Disease	p.ILE18LYS	Vitreoretinopathy, exudative 2 (EVR2)
Swiss-Prot	VAR_005478	Disease	p.LEU13ARG	Norrie disease (ND)
Swiss-Prot	VAR_064007	Disease	p.LEU61ILE	Vitreoretinopathy, exudative 2 (EVR2)
Swiss-Prot	VAR_005505	Disease	p.LEU124PHE	Vitreoretinopathy, exudative 2 (EVR2)
Swiss-Prot	VAR_005485	Disease	p.LEU61PHE	Norrie disease (ND)
Swiss-Prot	VAR_064019	Polymorphism	p.LEU108PRO	N/A
Swiss-Prot	VAR_016048	Disease	p.LEU16PRO	Norrie disease (ND)
Swiss-Prot	VAR_005486	Disease	p.LEU61PRO	Norrie disease (ND)
Swiss-Prot	VAR_064017	Disease	p.LEU103VAL	Vitreoretinopathy, exudative 2 (EVR2)
Swiss-Prot	VAR_064018	Disease	p.LYS104ASN	Norrie disease (ND)
Swiss-Prot	VAR_064005	Disease	p.LYS54ASN	Vitreoretinopathy, exudative 2 (EVR2)
Swiss-Prot	VAR_005483	Disease	p.LYS58ASN	Vitreoretinopathy, exudative 2 (EVR2)
Swiss-Prot	VAR_005498	Disease	p.LYS104GLN	Norrie disease (ND)
Swiss-Prot	VAR_064010	Disease	p.PHE89LEU	Norrie disease (ND)
Swiss-Prot	VAR_064016	Disease	p.PRO98LEU	Norrie disease (ND)
Swiss-Prot	VAR_005492	Disease	p.SER75CYS	Norrie disease (ND)
Swiss-Prot	VAR_005497	Disease	p.SER101PHE	Norrie disease (ND)
Swiss-Prot	VAR_016049	Disease	p.SER75PRO	Norrie disease (ND)
Swiss-Prot	VAR_064012	Disease	p.SER92PRO	Norrie disease (ND)
Swiss-Prot	VAR_005499	Disease	p.TYR120CYS	Vitreoretinopathy, exudative 2 (EVR2)
Swiss-Prot	VAR_005482	Disease	p.TYR44CYS	Norrie disease (ND)
Swiss-Prot	VAR_064003	Disease	p.VAL45GLU	Norrie disease (ND)
Swiss-Prot	VAR_005484	Disease	p.VAL60GLU	Norrie disease (ND)
Swiss-Prot	VAR_064004	Disease	p.VAL45MET	Norrie disease (ND)
OMIM	300658.0015	Disease	p.ALA105THR	NORRIE DISEASE
OMIM	300658.0017	Disease	p.ARG121LEU	EXUDATIVE VITREORETINOPATHY 2, X-LINKED
OMIM	300658.0001	Disease	p.ARG90PRO	NORRIE DISEASE
OMIM	300658.0010	Disease	p.ARG121TRP	EXUDATIVE VITREORETINOPATHY 2, X-LINKED
OMIM	300658.0016	Disease	p.CYS110GLY	EXUDATIVE VITREORETINOPATHY 2, X-LINKED
OMIM	300658.0007	Disease	p.CYS69SER	NORRIE DISEASE
OMIM	300658.0008	Disease	p.CYS128TER	NORRIE DISEASE
OMIM	300658.0018	Disease	p.CYS96TRP	NORRIE DISEASE
OMIM	300658.0005	Disease	p.CYS96TYR	NORRIE DISEASE
OMIM	300658.0013	Disease	p.HIS42ARG	EXUDATIVE VITREORETINOPATHY, X-LINKED
OMIM	300658.0011	Disease	p.LEU13ARG	NORRIE DISEASE
OMIM	300658.0006	Disease	p.LEU124PHE	EXUDATIVE VITREORETINOPATHY 2, X-LINKED
OMIM	300658.0012	Disease	p.LEU61PHE	NORRIE DISEASE
OMIM	300658.0002	Disease	p.SER75CYS	NORRIE DISEASE
OMIM	300658.0021	Disease	p.SER101PHE	NORRIE DISEASE
OMIM	300658.0020	Disease	p.SER73TER	NORRIE DISEASE
OMIM	300658.0004	Disease	p.TYR44CYS	NORRIE DISEASE
OMIM	300658.0019	Disease	p.VAL45GLU	NORRIE DISEASE
OMIM	300658.0003	Disease	p.VAL60GLU	NORRIE DISEASE

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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