Results for the protein: O60243

Results for the Protein: O60243

229463049

9394

HS6ST1

NCBI, UniProt

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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Default View: Sulfotransfer_2 - pfam03567	Swiss-Prot Protein: O60243 Identical to: NP_004798 Default View:

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-Prot	VAR_069283	Disease	p.ARG306GLN	Hypogonadotropic hypogonadism 15 with or without anosmia (HH15)
Swiss-Prot	VAR_069285	Disease	p.ARG323GLN	Hypogonadotropic hypogonadism 15 with or without anosmia (HH15)
Swiss-Prot	VAR_069284	Disease	p.ARG306TRP	Hypogonadotropic hypogonadism 15 with or without anosmia (HH15)
Swiss-Prot	VAR_069286	Disease	p.ARG382TRP	Hypogonadotropic hypogonadism 15 with or without anosmia (HH15)
Swiss-Prot	VAR_069287	Disease	p.MET404VAL	Hypogonadotropic hypogonadism 15 with or without anosmia (HH15)
dbSNP	rs61732018	Polymorphism	p.TYR68HIS	N/A
OMIM	604846.0003	Disease	p.ARG296GLN	HYPOGONADOTROPIC HYPOGONADISM 15 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM	604846.0004	Disease	p.ARG313GLN	HYPOGONADOTROPIC HYPOGONADISM 15 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM	604846.0002	Disease	p.ARG296TRP	HYPOGONADOTROPIC HYPOGONADISM 15 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM	604846.0001	Disease	p.ARG372TRP	HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY\|\|TO
OMIM	604846.0005	Disease	p.MET394VAL	HYPOGONADOTROPIC HYPOGONADISM 15 WITH ANOSMIA, SUSCEPTIBILITY TO

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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