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Results for the Protein: Q08499
12644392

PDE4D_HUMAN RecName: Full=cAMP-specific 3',5'-cyclic phosphodiesterase 4D; AltName: Full=DPDE3; AltName: Full=PDE43

Known Diseases associated with this Protein:
  ACRODYSOSTOSIS 2
  ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE (ACRDYS2)
20
0
8
0
12
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HDc - smart00471


Swiss-Prot Protein: Q08499
Identical to: NP_001098101
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HDcsmart004711.2e-24459634

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069448Diseasep.ALA227SERAcrodysostosis 2, with or without hormone resistance (ACRDYS2)
Swiss-ProtVAR_069451Diseasep.ALA304VALAcrodysostosis 2, with or without hormone resistance (ACRDYS2)
Swiss-ProtVAR_069449Diseasep.GLN228GLUAcrodysostosis 2, with or without hormone resistance (ACRDYS2)
Swiss-ProtVAR_069453Diseasep.GLU590ALAAcrodysostosis 2, with or without hormone resistance (ACRDYS2)
Swiss-ProtVAR_069454Diseasep.GLY673ASPAcrodysostosis 2, with or without hormone resistance (ACRDYS2)
Swiss-ProtVAR_069455Diseasep.ILE678THRAcrodysostosis 2, with or without hormone resistance (ACRDYS2)
Swiss-ProtVAR_068244Diseasep.PHE226SERAcrodysostosis 2, with or without hormone resistance (ACRDYS2)
Swiss-ProtVAR_068243Diseasep.PRO225THRAcrodysostosis 2, with or without hormone resistance (ACRDYS2)
Swiss-ProtVAR_068242Diseasep.SER190ALAAcrodysostosis 2, with or without hormone resistance (ACRDYS2)
Swiss-ProtVAR_069450Diseasep.SER301THRAcrodysostosis 2, with or without hormone resistance (ACRDYS2)
Swiss-ProtVAR_068245Diseasep.THR587PROAcrodysostosis 2, with or without hormone resistance (ACRDYS2)
Swiss-ProtVAR_069452Diseasep.VAL329ALAAcrodysostosis 2, with or without hormone resistance (ACRDYS2)
OMIM600129.0008 Diseasep.ALA243VALACRODYSOSTOSIS 2
OMIM600129.0005 Diseasep.GLN228GLUACRODYSOSTOSIS 2
OMIM600129.0006 Diseasep.GLU590ALAACRODYSOSTOSIS 2
OMIM600129.0007 Diseasep.GLY673ASPACRODYSOSTOSIS 2
OMIM600129.0002 Diseasep.PHE226SERACRODYSOSTOSIS 2
OMIM600129.0001 Diseasep.PRO225THRACRODYSOSTOSIS 2
OMIM600129.0003 Diseasep.SER190ALAACRODYSOSTOSIS 2
OMIM600129.0004 Diseasep.THR587PROACRODYSOSTOSIS 2



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