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Results for the Protein: P56539
3182930
859

CAV3_HUMAN RecName: Full=Caveolin-3; AltName: Full=M-caveolin

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC (CMH)
  CREATINE PHOSPHOKINASE, ELEVATED SERUM
  CREATINE PHOSPHOKINASE, ELEVATED SERUM,
  CREATINE PHOSPHOKINASE, ELEVATED SERUM, INCLUDED;;
  HYPERCKMIA (HYPCK)
  LIMB-GIRDLE MUSCULAR DYSTROPHY 1C (LGMD1C)
  LONG QT SYNDROME 2/9, DIGENIC, INCLUDED
  LONG QT SYNDROME 9
  LONG QT SYNDROME 9 (LQT9)
  LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C,
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, AUTOSOMAL RECESSIVE
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, INCLUDED
  MYOPATHY, DISTAL, TATEYAMA TYPE
  MYOPATHY, DISTAL, TATEYAMA TYPE (MPDT)
  RIPPLING MUSCLE DISEASE (RMD)
  RIPPLING MUSCLE DISEASE 2
  RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE
  RIPPLING MUSCLE DISEASE 2, INCLUDED
  RIPPLING MUSCLE DISEASE 2, INCLUDED;;
  SUDDEN INFANT DEATH SYNDROME (SIDS)
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Swiss-Prot Protein: P56539
Identical to: NP_203123, NP_001225
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_011513Diseasep.ALA46THRRippling muscle disease (RMD)
Swiss-ProtVAR_043697Diseasep.ALA85THRLong QT syndrome 9 (LQT9)
Swiss-ProtVAR_016208Diseasep.ALA93THRRippling muscle disease (RMD)
Swiss-ProtVAR_011514Diseasep.ALA46VALRippling muscle disease (RMD)
Swiss-ProtVAR_011512Diseasep.ARG27GLNRippling muscle disease (RMD)
Swiss-ProtVAR_029545Polymorphismp.ARG126HISN/A
dbSNPrs1008642 Diseasep.ASN33LYSMyopathy, distal, Tateyama type (MPDT)
Swiss-ProtVAR_015374Diseasep.ASP28GLURippling muscle disease (RMD)
Swiss-ProtVAR_010743Polymorphismp.CYS72TRPN/A
dbSNPrs72546667 Polymorphismp.GLY56SERN/A
Swiss-ProtVAR_043696Diseasep.LEU79ARGSudden infant death syndrome (SIDS)
Swiss-ProtVAR_016207Diseasep.LEU87PRORippling muscle disease (RMD)
Swiss-ProtVAR_043698Diseasep.PHE97CYSLong QT syndrome 9 (LQT9)
Swiss-ProtVAR_001403Diseasep.PRO105LEURippling muscle disease (RMD)
Swiss-ProtVAR_029540Diseasep.PRO29LEUHyperCKmia (HYPCK)
Swiss-ProtVAR_043699Diseasep.SER141ARGLong QT syndrome 9 (LQT9)
Swiss-ProtVAR_026696Polymorphismp.SER61ARGN/A
Swiss-ProtVAR_029541Diseasep.SER53GLYRippling muscle disease (RMD)
Swiss-ProtVAR_043695Diseasep.THR78METSudden infant death syndrome (SIDS)
Swiss-ProtVAR_021018Diseasep.THR64PROLimb-girdle muscular dystrophy 1C (LGMD1C)
Swiss-ProtVAR_029543Diseasep.THR64SERCardiomyopathy, familial hypertrophic (CMH)
Swiss-ProtVAR_021017Diseasep.VAL44GLULimb-girdle muscular dystrophy 1C (LGMD1C)
Swiss-ProtVAR_043694Diseasep.VAL14LEUSudden infant death syndrome (SIDS)
Swiss-ProtVAR_010742Diseasep.VAL57METHyperCKmia (HYPCK)
OMIM601253.0005 Diseasep.ALA46THRMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C||RIPPLING MUSCLE DISEASE 2, INCLUDED;;||CREATINE PHOSPHOKINASE, ELEVATED SERUM,
OMIM601253.0019 Diseasep.ALA85THRLONG QT SYNDROME 9
OMIM601253.0010 Diseasep.ALA93THRRIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE
OMIM601253.0006 Diseasep.ALA46VALRIPPLING MUSCLE DISEASE 2
OMIM601253.0007 Diseasep.ARG27GLNRIPPLING MUSCLE DISEASE 2||CREATINE PHOSPHOKINASE, ELEVATED SERUM, INCLUDED;;||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C,
OMIM601253.0014 Diseasep.ASN33LYSMYOPATHY, DISTAL, TATEYAMA TYPE
OMIM601253.0008 Diseasep.ASP28GLURIPPLING MUSCLE DISEASE 2||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, INCLUDED
OMIM601253.0004 Diseasep.CYS72TRPMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C
OMIM601253.0015 Diseasep.GLU47LYSRIPPLING MUSCLE DISEASE 2
OMIM601253.0003 Diseasep.GLY56SERMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, AUTOSOMAL RECESSIVE
OMIM601253.0021 Diseasep.LEU79ARGLONG QT SYNDROME 9
OMIM601253.0009 Diseasep.LEU87PRORIPPLING MUSCLE DISEASE 2
OMIM601253.0017 Diseasep.PHE97CYSLONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO
OMIM601253.0001 Diseasep.PRO105LEUMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C||RIPPLING MUSCLE DISEASE 2, INCLUDED
OMIM601253.0012 Diseasep.PRO29LEUCREATINE PHOSPHOKINASE, ELEVATED SERUM
OMIM601253.0016 Diseasep.SER141ARGLONG QT SYNDROME 9
OMIM601253.0018 Diseasep.THR78METLONG QT SYNDROME 9||LONG QT SYNDROME 2/9, DIGENIC, INCLUDED
OMIM601253.0013 Diseasep.THR64SERCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC
OMIM601253.0020 Diseasep.VAL14LEULONG QT SYNDROME 9



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