Results for the protein: P22888

Results for the Protein: P22888

281185513

3973

LHCGR

NCBI, UniProt

LSHR_HUMAN RecName: Full=Lutropin-choriogonadotropic hormone receptor; Short=LH/CG-R; AltName: Full=Luteinizing hormone receptor; Short=LHR; Short=LSH-R; Flags: Precursor

Known Diseases associated with this Protein:
  FAMILIAL MALE PRECOCIOUS PUBERTY (FMPP)
  LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY
  LEYDIG CELL HYPOPLASIA, TYPE I
  LEYDIG CELL HYPOPLASIA, TYPE II
  LEYDIG HYPOPLASIA, TYPE I
  LUTEINIZING HORMONE RESISTANCE (LHR)
  LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED
  PRECOCIOUS PUBERTY, MALE-LIMITED

49

6

24

2

29

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Default View: 7tm_1 - pfam00001	Swiss-Prot Protein: P22888 Identical to: NP_000224 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_003560	Disease	p.ALA593PRO	Luteinizing hormone resistance (LHR)
Swiss-Prot	VAR_003553	Disease	p.ALA373VAL	Familial male precocious puberty (FMPP)
Swiss-Prot	VAR_003555	Disease	p.ALA568VAL	Familial male precocious puberty (FMPP)
Swiss-Prot	VAR_003557	Disease	p.ALA572VAL	Familial male precocious puberty (FMPP)
Swiss-Prot	VAR_003550	Polymorphism	p.ASN284SER	N/A
dbSNP	rs12470652	Polymorphism	p.ASN291SER	N/A
dbSNP	rs2293275	Polymorphism	p.ASN312SER	N/A
Swiss-Prot	VAR_035764	Polymorphism	p.ASP564ASN	N/A
Swiss-Prot	VAR_010161	Disease	p.ASP578GLU	Familial male precocious puberty (FMPP)
Swiss-Prot	VAR_010159	Disease	p.ASP564GLY	Familial male precocious puberty (FMPP)
Swiss-Prot	VAR_003559	Disease	p.ASP578GLY	Familial male precocious puberty (FMPP)
Swiss-Prot	VAR_010162	Polymorphism	p.ASP578HIS	N/A
Swiss-Prot	VAR_010163	Disease	p.ASP578TYR	Familial male precocious puberty (FMPP)
Swiss-Prot	VAR_010154	Disease	p.CYS131ARG	Luteinizing hormone resistance (LHR)
Swiss-Prot	VAR_010158	Disease	p.CYS543ARG	Luteinizing hormone resistance (LHR)
Swiss-Prot	VAR_010164	Disease	p.CYS581ARG	Familial male precocious puberty (FMPP)
Swiss-Prot	VAR_010155	Disease	p.CYS343SER	Luteinizing hormone resistance (LHR)
Swiss-Prot	VAR_003552	Disease	p.GLU354LYS	Luteinizing hormone resistance (LHR)
Swiss-Prot	VAR_010157	Disease	p.ILE542LEU	Familial male precocious puberty (FMPP)
Swiss-Prot	VAR_010160	Disease	p.ILE575LEU	Familial male precocious puberty (FMPP)
Swiss-Prot	VAR_003563	Disease	p.ILE625LYS	Luteinizing hormone resistance (LHR)
Swiss-Prot	VAR_062337	Disease	p.ILE152THR	Luteinizing hormone resistance (LHR)
Swiss-Prot	VAR_010156	Disease	p.LEU457ARG	Familial male precocious puberty (FMPP)
Swiss-Prot	VAR_062338	Disease	p.LEU368PRO	Familial male precocious puberty (FMPP)
Swiss-Prot	VAR_062339	Disease	p.LEU502PRO	Luteinizing hormone resistance (LHR)
Swiss-Prot	VAR_003556	Disease	p.MET571ILE	Familial male precocious puberty (FMPP)
Swiss-Prot	VAR_003554	Disease	p.MET398THR	Familial male precocious puberty (FMPP)
Swiss-Prot	VAR_003551	Polymorphism	p.SER306ASN	N/A
Swiss-Prot	VAR_003562	Disease	p.SER616TYR	Luteinizing hormone resistance (LHR)
Swiss-Prot	VAR_003558	Disease	p.THR577ILE	Familial male precocious puberty (FMPP)
Swiss-Prot	VAR_062336	Disease	p.VAL144PHE	Luteinizing hormone resistance (LHR)
OMIM	152790.0004	Disease	p.ALA593PRO	LEYDIG CELL HYPOPLASIA, TYPE I\|\|LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED
OMIM	152790.0013	Disease	p.ALA373VAL	PRECOCIOUS PUBERTY, MALE-LIMITED
OMIM	152790.0023	Disease	p.ALA568VAL	PRECOCIOUS PUBERTY, MALE-LIMITED
OMIM	152790.0006	Disease	p.ALA572VAL	PRECOCIOUS PUBERTY, MALE-LIMITED
OMIM	152790.0012	Disease	p.ARG133CYS	LEYDIG CELL HYPOPLASIA, TYPE II
OMIM	152790.0008	Disease	p.ARG554TER	LEYDIG CELL HYPOPLASIA, TYPE I\|\|LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED
OMIM	152790.0029	Disease	p.ASP564GLY	PRECOCIOUS PUBERTY, MALE-LIMITED
OMIM	152790.0001 152790.0011	Disease	p.ASP578GLY	PRECOCIOUS PUBERTY, MALE-LIMITED
OMIM	152790.0003	Disease	p.ASP582GLY	PRECOCIOUS PUBERTY, MALE-LIMITED
OMIM	152790.0019	Disease	p.ASP578HIS	LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY
OMIM	152790.0026	Disease	p.CYS543ARG	LEYDIG CELL HYPOPLASIA, TYPE I
OMIM	152790.0025	Disease	p.CYS343SER	LEYDIG CELL HYPOPLASIA, TYPE I
OMIM	152790.0007	Disease	p.CYS545TER	LEYDIG CELL HYPOPLASIA, TYPE I
OMIM	152790.0014	Disease	p.GLU354LYS	LEYDIG CELL HYPOPLASIA, TYPE I\|\|LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED
OMIM	152790.0018	Disease	p.ILE542LEU	PRECOCIOUS PUBERTY, MALE-LIMITED
OMIM	152790.0016	Disease	p.ILE625LYS	LEYDIG CELL HYPOPLASIA, TYPE II
OMIM	152790.0024	Disease	p.LEU457ARG	PRECOCIOUS PUBERTY, MALE-LIMITED
OMIM	152790.0022	Disease	p.LEU368PRO	PRECOCIOUS PUBERTY, MALE-LIMITED
OMIM	152790.0027	Disease	p.LEU502PRO	LEYDIG CELL HYPOPLASIA, TYPE I
OMIM	152790.0002	Disease	p.MET575ILE	PRECOCIOUS PUBERTY, MALE-LIMITED
OMIM	152790.0010	Disease	p.MET398THR	PRECOCIOUS PUBERTY, MALE-LIMITED
OMIM	152790.0009	Disease	p.SER616TYR	LEYDIG HYPOPLASIA, TYPE I
OMIM	152790.0005	Disease	p.THR577ILE	PRECOCIOUS PUBERTY, MALE-LIMITED
OMIM	152790.0028	Disease	p.VAL144PHE	LEYDIG CELL HYPOPLASIA, TYPE I

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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