Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q969F8
125987836

KISSR_HUMAN RecName: Full=KiSS-1 receptor; Short=KiSS-1R; AltName: Full=G-protein coupled receptor 54; AltName: Full=G-protein coupled receptor OT7T175; Short=hOT7T175; AltName: Full=Hypogonadotropin-1; AltName: Full=Kisspeptins receptor; AltName: Full=Metastin receptor

Known Diseases associated with this Protein:
  HYPOGONADOTROPIC HYPOGONADISM 8 WITH ANOSMIA, SUSCEPTIBILITY TO
  HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (HH8)
  HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA
  PRECOCIOUS PUBERTY, CENTRAL 1 (CPPB1)
  PRECOCIOUS PUBERTY, CENTRAL, 1
13
1
6
0
8
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

7tm_1 - pfam00001


Swiss-Prot Protein: Q969F8
Identical to: NP_115940
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
7tm_1pfam000019.3e-5965323

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069962Diseasep.ALA194ASPHypogonadotropic hypogonadism 8 with or without anosmia (HH8)
Swiss-ProtVAR_069961Diseasep.ALA189THRHypogonadotropic hypogonadism 8 with or without anosmia (HH8)
Swiss-ProtVAR_021394Diseasep.ARG297LEUHypogonadotropic hypogonadism 8 with or without anosmia (HH8)
Swiss-ProtVAR_043907Diseasep.ARG386PROPrecocious puberty, central 1 (CPPB1)
Swiss-ProtVAR_021393Diseasep.CYS223ARGHypogonadotropic hypogonadism 8 with or without anosmia (HH8)
Swiss-ProtVAR_021395Polymorphismp.LEU364HISN/A
Swiss-ProtVAR_043906Diseasep.LEU102PROHypogonadotropic hypogonadism 8 with or without anosmia (HH8)
Swiss-ProtVAR_021392Diseasep.LEU148SERHypogonadotropic hypogonadism 8 with or without anosmia (HH8)
OMIM604161.0007 Diseasep.ALA194ASPHYPOGONADOTROPIC HYPOGONADISM 8 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM604161.0006 Diseasep.ARG386PROPRECOCIOUS PUBERTY, CENTRAL, 1
OMIM604161.0002 Diseasep.ARG331TERHYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA
OMIM604161.0005 Diseasep.LEU102PROHYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA
OMIM604161.0001 Diseasep.LEU148SERHYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA
OMIM604161.0003 Diseasep.TER399ARGHYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258