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Results for the Protein: P22888
281185513

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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7tm_1 - pfam00001


Swiss-Prot Protein: P22888
Identical to: NP_000224
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
7tm_1pfam000017.5e-41382623

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_003560Diseasep.ALA593PROLuteinizing hormone resistance (LHR)
Swiss-ProtVAR_003553Diseasep.ALA373VALFamilial male precocious puberty (FMPP)
Swiss-ProtVAR_003555Diseasep.ALA568VALFamilial male precocious puberty (FMPP)
Swiss-ProtVAR_003557Diseasep.ALA572VALFamilial male precocious puberty (FMPP)
Swiss-ProtVAR_003550Polymorphismp.ASN284SERN/A
dbSNPrs12470652 Polymorphismp.ASN291SERN/A
dbSNPrs2293275 Polymorphismp.ASN312SERN/A
Swiss-ProtVAR_035764Polymorphismp.ASP564ASNN/A
Swiss-ProtVAR_010161Diseasep.ASP578GLUFamilial male precocious puberty (FMPP)
Swiss-ProtVAR_010159Diseasep.ASP564GLYFamilial male precocious puberty (FMPP)
Swiss-ProtVAR_003559Diseasep.ASP578GLYFamilial male precocious puberty (FMPP)
Swiss-ProtVAR_010162Polymorphismp.ASP578HISN/A
Swiss-ProtVAR_010163Diseasep.ASP578TYRFamilial male precocious puberty (FMPP)
Swiss-ProtVAR_010154Diseasep.CYS131ARGLuteinizing hormone resistance (LHR)
Swiss-ProtVAR_010158Diseasep.CYS543ARGLuteinizing hormone resistance (LHR)
Swiss-ProtVAR_010164Diseasep.CYS581ARGFamilial male precocious puberty (FMPP)
Swiss-ProtVAR_010155Diseasep.CYS343SERLuteinizing hormone resistance (LHR)
Swiss-ProtVAR_003552Diseasep.GLU354LYSLuteinizing hormone resistance (LHR)
Swiss-ProtVAR_010157Diseasep.ILE542LEUFamilial male precocious puberty (FMPP)
Swiss-ProtVAR_010160Diseasep.ILE575LEUFamilial male precocious puberty (FMPP)
Swiss-ProtVAR_003563Diseasep.ILE625LYSLuteinizing hormone resistance (LHR)
Swiss-ProtVAR_062337Diseasep.ILE152THRLuteinizing hormone resistance (LHR)
Swiss-ProtVAR_010156Diseasep.LEU457ARGFamilial male precocious puberty (FMPP)
Swiss-ProtVAR_062338Diseasep.LEU368PROFamilial male precocious puberty (FMPP)
Swiss-ProtVAR_062339Diseasep.LEU502PROLuteinizing hormone resistance (LHR)
Swiss-ProtVAR_003556Diseasep.MET571ILEFamilial male precocious puberty (FMPP)
Swiss-ProtVAR_003554Diseasep.MET398THRFamilial male precocious puberty (FMPP)
Swiss-ProtVAR_003551Polymorphismp.SER306ASNN/A
Swiss-ProtVAR_003562Diseasep.SER616TYRLuteinizing hormone resistance (LHR)
Swiss-ProtVAR_003558Diseasep.THR577ILEFamilial male precocious puberty (FMPP)
Swiss-ProtVAR_062336Diseasep.VAL144PHELuteinizing hormone resistance (LHR)
OMIM152790.0004 Diseasep.ALA593PROLEYDIG CELL HYPOPLASIA, TYPE I||LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED
OMIM152790.0013 Diseasep.ALA373VALPRECOCIOUS PUBERTY, MALE-LIMITED
OMIM152790.0023 Diseasep.ALA568VALPRECOCIOUS PUBERTY, MALE-LIMITED
OMIM152790.0006 Diseasep.ALA572VALPRECOCIOUS PUBERTY, MALE-LIMITED
OMIM152790.0012 Diseasep.ARG133CYSLEYDIG CELL HYPOPLASIA, TYPE II
OMIM152790.0008 Diseasep.ARG554TERLEYDIG CELL HYPOPLASIA, TYPE I||LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED
OMIM152790.0029 Diseasep.ASP564GLYPRECOCIOUS PUBERTY, MALE-LIMITED
OMIM152790.0001 152790.0011 Diseasep.ASP578GLYPRECOCIOUS PUBERTY, MALE-LIMITED
OMIM152790.0003 Diseasep.ASP582GLYPRECOCIOUS PUBERTY, MALE-LIMITED
OMIM152790.0019 Diseasep.ASP578HISLEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY
OMIM152790.0026 Diseasep.CYS543ARGLEYDIG CELL HYPOPLASIA, TYPE I
OMIM152790.0025 Diseasep.CYS343SERLEYDIG CELL HYPOPLASIA, TYPE I
OMIM152790.0007 Diseasep.CYS545TERLEYDIG CELL HYPOPLASIA, TYPE I
OMIM152790.0014 Diseasep.GLU354LYSLEYDIG CELL HYPOPLASIA, TYPE I||LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED
OMIM152790.0018 Diseasep.ILE542LEUPRECOCIOUS PUBERTY, MALE-LIMITED
OMIM152790.0016 Diseasep.ILE625LYSLEYDIG CELL HYPOPLASIA, TYPE II
OMIM152790.0024 Diseasep.LEU457ARGPRECOCIOUS PUBERTY, MALE-LIMITED
OMIM152790.0022 Diseasep.LEU368PROPRECOCIOUS PUBERTY, MALE-LIMITED
OMIM152790.0027 Diseasep.LEU502PROLEYDIG CELL HYPOPLASIA, TYPE I
OMIM152790.0002 Diseasep.MET575ILEPRECOCIOUS PUBERTY, MALE-LIMITED
OMIM152790.0010 Diseasep.MET398THRPRECOCIOUS PUBERTY, MALE-LIMITED
OMIM152790.0009 Diseasep.SER616TYRLEYDIG HYPOPLASIA, TYPE I
OMIM152790.0005 Diseasep.THR577ILEPRECOCIOUS PUBERTY, MALE-LIMITED
OMIM152790.0028 Diseasep.VAL144PHELEYDIG CELL HYPOPLASIA, TYPE I



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