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Results for the Protein: NP_006194
32306513

cAMP-specific 3',5'-cyclic phosphodiesterase 4D isoform PDE4D3 [Homo sapiens]

Known Diseases associated with this Protein:
  ACRODYSOSTOSIS 2
8
0
8
0
0
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Default View:

HDc - smart00471
PDEase_I - pfam00233
HDc - cd00077


RefSeq Protein: NP_006194
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PDEase_Ipfam002331.1e-163325569
HDcsmart004711.2e-24323498

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM600129.0008 Diseasep.ALA107VALACRODYSOSTOSIS 2
OMIM600129.0005 Diseasep.GLN92GLUACRODYSOSTOSIS 2
OMIM600129.0006 Diseasep.GLU454ALAACRODYSOSTOSIS 2
OMIM600129.0007 Diseasep.GLY537ASPACRODYSOSTOSIS 2
OMIM600129.0002 Diseasep.PHE90SERACRODYSOSTOSIS 2
OMIM600129.0001 Diseasep.PRO89THRACRODYSOSTOSIS 2
OMIM600129.0003 Diseasep.SER54ALAACRODYSOSTOSIS 2
OMIM600129.0004 Diseasep.THR451PROACRODYSOSTOSIS 2



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