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Results for the Protein: NP_001138764
223718019

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

Known Diseases associated with this Protein:
  RETINITIS PIGMENTOSA 40
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Default View:

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




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GAFpfam015900.000153150
PDEase_Ipfam002336.8e-136277525
GAFsmart000652.5e-271160
HDcsmart004712e-18275453

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM180072.0002 Diseasep.ARG252TERRETINITIS PIGMENTOSA 40
OMIM180072.0001 Diseasep.GLN19TERRETINITIS PIGMENTOSA 40
OMIM180072.0004 Diseasep.HIS278TYRRETINITIS PIGMENTOSA 40
OMIM180072.0007 Diseasep.TRP528ARGRETINITIS PIGMENTOSA 40



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