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Results for the Protein: Q9GZU5
23396778
NYX

NYX_HUMAN RecName: Full=Nyctalopin; Flags: Precursor

Known Diseases associated with this Protein:
  NIGHT BLINDNESS, CONGENITAL STATIONARY, 1A (CSNB1A)
  NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
21
1
5
0
17
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Default View:

LRR_TYP - smart00369
LRR - smart00370
LRRCT - smart00082


Swiss-Prot Protein: Q9GZU5
Identical to: NP_072089
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LRRsmart003709.6e-0785108
LRR_TYPsmart003690.00037277300
LRRsmart003700.00037277300
LRRCTsmart000823.7e-05336383

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_052020Polymorphismp.ALA406GLYN/A
Swiss-ProtVAR_013872Diseasep.ALA187LYSNight blindness, congenital stationary, 1A (CSNB1A)
Swiss-ProtVAR_013868Diseasep.ALA143PRONight blindness, congenital stationary, 1A (CSNB1A)
Swiss-ProtVAR_013876Diseasep.ASN264LYSNight blindness, congenital stationary, 1A (CSNB1A)
Swiss-ProtVAR_013874Diseasep.ASN216SERNight blindness, congenital stationary, 1A (CSNB1A)
Swiss-ProtVAR_013880Diseasep.ASN312SERNight blindness, congenital stationary, 1A (CSNB1A)
Swiss-ProtVAR_013867Diseasep.CYS31SERNight blindness, congenital stationary, 1A (CSNB1A)
Swiss-ProtVAR_013882Diseasep.GLY370VALNight blindness, congenital stationary, 1A (CSNB1A)
Swiss-ProtVAR_013873Diseasep.LEU213GLNNight blindness, congenital stationary, 1A (CSNB1A)
Swiss-ProtVAR_013871Diseasep.LEU184PRONight blindness, congenital stationary, 1A (CSNB1A)
Swiss-ProtVAR_013875Diseasep.LEU232PRONight blindness, congenital stationary, 1A (CSNB1A)
Swiss-ProtVAR_013877Diseasep.LEU285PRONight blindness, congenital stationary, 1A (CSNB1A)
Swiss-ProtVAR_013879Diseasep.LEU307PRONight blindness, congenital stationary, 1A (CSNB1A)
Swiss-ProtVAR_013881Diseasep.LEU347PRONight blindness, congenital stationary, 1A (CSNB1A)
Swiss-ProtVAR_013878Diseasep.PHE298SERNight blindness, congenital stationary, 1A (CSNB1A)
Swiss-ProtVAR_013870Diseasep.PRO175ARGNight blindness, congenital stationary, 1A (CSNB1A)
Swiss-ProtVAR_013869Diseasep.PRO151LEUNight blindness, congenital stationary, 1A (CSNB1A)
OMIM300278.0004 Diseasep.ALA187LYSNIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
OMIM300278.0005 Diseasep.ARG94PRONIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
OMIM300278.0003 Diseasep.CYS35TERNIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
OMIM300278.0006 Diseasep.ILE101THRNIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
OMIM300278.0002 Diseasep.TRP350TERNIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A



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