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Results for the Protein: NP_001138763
223718037

rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2
  RETINITIS PIGMENTOSA 40
5
2
5
2
0
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Default View:

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




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HDccd000771.5e-16556741
GAFpfam015902.1e-2271220
GAFpfam015901.6e-20252429
PDEase_Ipfam002336.8e-136556804
GAFsmart000651.3e-3171230
GAFsmart000653.7e-52252439
HDcsmart004712e-18554732

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs113842820 Polymorphismp.ARG48GLNN/A
dbSNPrs28414606 Polymorphismp.PRO125ALAN/A
OMIM180072.0002 Diseasep.ARG531TERRETINITIS PIGMENTOSA 40
OMIM180072.0001 Diseasep.GLN298TERRETINITIS PIGMENTOSA 40
OMIM180072.0005 Diseasep.HIS258ASNNIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2
OMIM180072.0004 Diseasep.HIS557TYRRETINITIS PIGMENTOSA 40
OMIM180072.0007 Diseasep.TRP807ARGRETINITIS PIGMENTOSA 40



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