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Results for the Protein: P35913
226693550

PDE6B_HUMAN RecName: Full=Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta; Short=GMP-PDE beta; Flags: Precursor

Known Diseases associated with this Protein:
  NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 (CSNBAD2)
  RETINITIS PIGMENTOSA 40 (RP40)
13
5
0
0
18
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Default View:

GAF - pfam01590
GAF - smart00065
HDc - smart00471
PDEase_I - pfam00233
HDc - cd00077


Swiss-Prot Protein: P35913
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HDccd000771.5e-16556741
GAFpfam015902.1e-2271220
GAFpfam015904.7e-20252429
PDEase_Ipfam002336.8e-136556804
GAFsmart000651.3e-3171230
GAFsmart000651.1e-51252439
HDcsmart004712e-18554732

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_009283Diseasep.ARG74CYSRetinitis pigmentosa 40 (RP40)
Swiss-ProtVAR_009292Diseasep.ARG552GLNRetinitis pigmentosa 40 (RP40)
Swiss-ProtVAR_068361Diseasep.ARG100HISRetinitis pigmentosa 40 (RP40)
Swiss-ProtVAR_068362Diseasep.ASP776ASNRetinitis pigmentosa 40 (RP40)
Swiss-ProtVAR_054869Polymorphismp.GLU654ASPN/A
Swiss-ProtVAR_009284Polymorphismp.GLU166LYSN/A
Swiss-ProtVAR_006051Diseasep.GLY576ASPRetinitis pigmentosa 40 (RP40)
Swiss-ProtVAR_009289Diseasep.HIS258ASNNight blindness, congenital stationary, autosomal dominant 2 (CSNBAD2)
Swiss-ProtVAR_006050Diseasep.HIS557TYRRetinitis pigmentosa 40 (RP40)
Swiss-ProtVAR_009291Diseasep.ILE535ASNRetinitis pigmentosa 40 (RP40)
Swiss-ProtVAR_006052Diseasep.LEU699ARGRetinitis pigmentosa 40 (RP40)
Swiss-ProtVAR_009293Diseasep.LEU854ARGRetinitis pigmentosa 40 (RP40)
Swiss-ProtVAR_009287Diseasep.LEU228HISRetinitis pigmentosa 40 (RP40)
Swiss-ProtVAR_009288Polymorphismp.LEU228ILEN/A
Swiss-ProtVAR_009290Diseasep.LEU527PRORetinitis pigmentosa 40 (RP40)
Swiss-ProtVAR_009285Polymorphismp.TYR212HISN/A
Swiss-ProtVAR_009286Diseasep.TYR219HISRetinitis pigmentosa 40 (RP40)
Swiss-ProtVAR_054868Polymorphismp.VAL320ILEN/A



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