Results for the protein: P56539

Results for the Protein: P56539

3182930

859

CAV3

NCBI, UniProt

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)

39

4

19

2

22

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Default View:	Swiss-Prot Protein: P56539 Identical to: NP_203123, NP_001225 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_011513	Disease	p.ALA46THR	Rippling muscle disease (RMD)
Swiss-Prot	VAR_043697	Disease	p.ALA85THR	Long QT syndrome 9 (LQT9)
Swiss-Prot	VAR_016208	Disease	p.ALA93THR	Rippling muscle disease (RMD)
Swiss-Prot	VAR_011514	Disease	p.ALA46VAL	Rippling muscle disease (RMD)
Swiss-Prot	VAR_011512	Disease	p.ARG27GLN	Rippling muscle disease (RMD)
Swiss-Prot	VAR_029545	Polymorphism	p.ARG126HIS	N/A
dbSNP	rs1008642	Disease	p.ASN33LYS	Myopathy, distal, Tateyama type (MPDT)
Swiss-Prot	VAR_015374	Disease	p.ASP28GLU	Rippling muscle disease (RMD)
Swiss-Prot	VAR_010743	Polymorphism	p.CYS72TRP	N/A
dbSNP	rs72546667	Polymorphism	p.GLY56SER	N/A
Swiss-Prot	VAR_043696	Disease	p.LEU79ARG	Sudden infant death syndrome (SIDS)
Swiss-Prot	VAR_016207	Disease	p.LEU87PRO	Rippling muscle disease (RMD)
Swiss-Prot	VAR_043698	Disease	p.PHE97CYS	Long QT syndrome 9 (LQT9)
Swiss-Prot	VAR_001403	Disease	p.PRO105LEU	Rippling muscle disease (RMD)
Swiss-Prot	VAR_029540	Disease	p.PRO29LEU	HyperCKmia (HYPCK)
Swiss-Prot	VAR_043699	Disease	p.SER141ARG	Long QT syndrome 9 (LQT9)
Swiss-Prot	VAR_026696	Polymorphism	p.SER61ARG	N/A
Swiss-Prot	VAR_029541	Disease	p.SER53GLY	Rippling muscle disease (RMD)
Swiss-Prot	VAR_043695	Disease	p.THR78MET	Sudden infant death syndrome (SIDS)
Swiss-Prot	VAR_021018	Disease	p.THR64PRO	Limb-girdle muscular dystrophy 1C (LGMD1C)
Swiss-Prot	VAR_029543	Disease	p.THR64SER	Cardiomyopathy, familial hypertrophic (CMH)
Swiss-Prot	VAR_021017	Disease	p.VAL44GLU	Limb-girdle muscular dystrophy 1C (LGMD1C)
Swiss-Prot	VAR_043694	Disease	p.VAL14LEU	Sudden infant death syndrome (SIDS)
Swiss-Prot	VAR_010742	Disease	p.VAL57MET	HyperCKmia (HYPCK)
OMIM	601253.0005	Disease	p.ALA46THR	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C\|\|RIPPLING MUSCLE DISEASE 2, INCLUDED;;\|\|CREATINE PHOSPHOKINASE, ELEVATED SERUM,
OMIM	601253.0019	Disease	p.ALA85THR	LONG QT SYNDROME 9
OMIM	601253.0010	Disease	p.ALA93THR	RIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE
OMIM	601253.0006	Disease	p.ALA46VAL	RIPPLING MUSCLE DISEASE 2
OMIM	601253.0007	Disease	p.ARG27GLN	RIPPLING MUSCLE DISEASE 2\|\|CREATINE PHOSPHOKINASE, ELEVATED SERUM, INCLUDED;;\|\|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C,
OMIM	601253.0014	Disease	p.ASN33LYS	MYOPATHY, DISTAL, TATEYAMA TYPE
OMIM	601253.0008	Disease	p.ASP28GLU	RIPPLING MUSCLE DISEASE 2\|\|MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, INCLUDED
OMIM	601253.0004	Disease	p.CYS72TRP	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C
OMIM	601253.0015	Disease	p.GLU47LYS	RIPPLING MUSCLE DISEASE 2
OMIM	601253.0003	Disease	p.GLY56SER	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, AUTOSOMAL RECESSIVE
OMIM	601253.0021	Disease	p.LEU79ARG	LONG QT SYNDROME 9
OMIM	601253.0009	Disease	p.LEU87PRO	RIPPLING MUSCLE DISEASE 2
OMIM	601253.0017	Disease	p.PHE97CYS	LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO
OMIM	601253.0001	Disease	p.PRO105LEU	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C\|\|RIPPLING MUSCLE DISEASE 2, INCLUDED
OMIM	601253.0012	Disease	p.PRO29LEU	CREATINE PHOSPHOKINASE, ELEVATED SERUM
OMIM	601253.0016	Disease	p.SER141ARG	LONG QT SYNDROME 9
OMIM	601253.0018	Disease	p.THR78MET	LONG QT SYNDROME 9\|\|LONG QT SYNDROME 2/9, DIGENIC, INCLUDED
OMIM	601253.0013	Disease	p.THR64SER	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC
OMIM	601253.0020	Disease	p.VAL14LEU	LONG QT SYNDROME 9

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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