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Results for the Protein: Q9C004
14916719

SPY4_HUMAN RecName: Full=Protein sprouty homolog 4; Short=Spry-4

Known Diseases associated with this Protein:
  HYPOGONADOTROPIC HYPOGONADISM 17 WITH ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA (HH17)
  HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY
  HYPOGONADOTROPIC HYPOGONADISM 17 WITHOUT ANOSMIA
  TO
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3
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7
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Sprouty - pfam05210


Swiss-Prot Protein: Q9C004
Identical to: NP_001120968
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Sproutypfam052102e-66164276

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069930Diseasep.ASP82ASNHypogonadotropic hypogonadism 17 with or without anosmia (HH17)
Swiss-ProtVAR_069932Diseasep.CYS186TYRHypogonadotropic hypogonadism 17 with or without anosmia (HH17)
Swiss-ProtVAR_069931Diseasep.LYS154ARGHypogonadotropic hypogonadism 17 with or without anosmia (HH17)
Swiss-ProtVAR_069933Diseasep.SER218TYRHypogonadotropic hypogonadism 17 with or without anosmia (HH17)
Swiss-ProtVAR_069929Diseasep.THR77METHypogonadotropic hypogonadism 17 with or without anosmia (HH17)
Swiss-ProtVAR_069935Diseasep.VAL281ILEHypogonadotropic hypogonadism 17 with or without anosmia (HH17)
Swiss-ProtVAR_069934Diseasep.VAL258METHypogonadotropic hypogonadism 17 with or without anosmia (HH17)
OMIM607984.0001 Diseasep.LYS154ARGHYPOGONADOTROPIC HYPOGONADISM 17 WITH ANOSMIA
OMIM607984.0002 Diseasep.SER218TYRHYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY||TO
OMIM607984.0004 Diseasep.VAL281ILEHYPOGONADOTROPIC HYPOGONADISM 17 WITHOUT ANOSMIA



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