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Results for the Protein: O60243
229463049

H6ST1_HUMAN RecName: Full=Heparan-sulfate 6-O-sulfotransferase 1; Short=HS6ST-1

Known Diseases associated with this Protein:
  HYPOGONADOTROPIC HYPOGONADISM 15 WITH ANOSMIA, SUSCEPTIBILITY TO
  HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA (HH15)
  HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY
  TO
10
1
5
1
5
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Sulfotransfer_2 - pfam03567


Swiss-Prot Protein: O60243
Identical to: NP_004798
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Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069283Diseasep.ARG306GLNHypogonadotropic hypogonadism 15 with or without anosmia (HH15)
Swiss-ProtVAR_069285Diseasep.ARG323GLNHypogonadotropic hypogonadism 15 with or without anosmia (HH15)
Swiss-ProtVAR_069284Diseasep.ARG306TRPHypogonadotropic hypogonadism 15 with or without anosmia (HH15)
Swiss-ProtVAR_069286Diseasep.ARG382TRPHypogonadotropic hypogonadism 15 with or without anosmia (HH15)
Swiss-ProtVAR_069287Diseasep.MET404VALHypogonadotropic hypogonadism 15 with or without anosmia (HH15)
dbSNPrs61732018 Polymorphismp.TYR68HISN/A
OMIM604846.0003 Diseasep.ARG296GLNHYPOGONADOTROPIC HYPOGONADISM 15 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM604846.0004 Diseasep.ARG313GLNHYPOGONADOTROPIC HYPOGONADISM 15 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM604846.0002 Diseasep.ARG296TRPHYPOGONADOTROPIC HYPOGONADISM 15 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM604846.0001 Diseasep.ARG372TRPHYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY||TO
OMIM604846.0005 Diseasep.MET394VALHYPOGONADOTROPIC HYPOGONADISM 15 WITH ANOSMIA, SUSCEPTIBILITY TO



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