Results for the protein: Q8NFM7

Results for the Protein: Q8NFM7

126302555

54756

IL17RD

NCBI, UniProt

I17RD_HUMAN RecName: Full=Interleukin-17 receptor D; Short=IL-17 receptor D; Short=IL-17RD; AltName: Full=IL17Rhom; AltName: Full=Interleukin-17 receptor-like protein; AltName: Full=Sef homolog; Short=hSef; Flags: Precursor

Known Diseases associated with this Protein:
  HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO
  HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA (HH18)

12

2

5

2

7

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Default View: SEFIR - pfam08357	Swiss-Prot Protein: Q8NFM7 Identical to: NP_060033 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_069942	Disease	p.ALA735VAL	Hypogonadotropic hypogonadism 18 with or without anosmia (HH18)
Swiss-Prot	VAR_069937	Disease	p.LYS162ARG	Hypogonadotropic hypogonadism 18 with or without anosmia (HH18)
Swiss-Prot	VAR_069936	Disease	p.LYS131THR	Hypogonadotropic hypogonadism 18 with or without anosmia (HH18)
Swiss-Prot	VAR_069941	Disease	p.PRO577GLN	Hypogonadotropic hypogonadism 18 with or without anosmia (HH18)
Swiss-Prot	VAR_069938	Disease	p.PRO306SER	Hypogonadotropic hypogonadism 18 with or without anosmia (HH18)
Swiss-Prot	VAR_069940	Disease	p.SER468LEU	Hypogonadotropic hypogonadism 18 with or without anosmia (HH18)
dbSNP	rs6780995	Polymorphism	p.THR255MET	N/A
Swiss-Prot	VAR_069939	Disease	p.TYR379CYS	Hypogonadotropic hypogonadism 18 with or without anosmia (HH18)
dbSNP	rs17057718	Polymorphism	p.VAL301MET	N/A
OMIM	606807.0003	Disease	p.ALA735VAL	HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM	606807.0001	Disease	p.LYS131THR	HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA
OMIM	606807.0005	Disease	p.PRO577GLN	HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA
OMIM	606807.0004	Disease	p.SER468LEU	HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA
OMIM	606807.0002	Disease	p.TYR379CYS	HYPOGONADOTROPIC HYPOGONADISM 18 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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