Results for the protein: P29033

Results for the Protein: P29033

77416855

2706

GJB2

NCBI, UniProt

CXB2_HUMAN RecName: Full=Gap junction beta-2 protein; AltName: Full=Connexin-26; Short=Cx26

Known Diseases associated with this Protein:
  BART-PUMPHREY SYNDROME (BPS)
  DEAFNESS, AUTOSOMAL DOMINANT 3A
  DEAFNESS, AUTOSOMAL DOMINANT 3A, INCLUDED
  DEAFNESS, AUTOSOMAL DOMINANT, 3A (DFNA3A)
  DEAFNESS, AUTOSOMAL RECESSIVE 1A
  DEAFNESS, AUTOSOMAL RECESSIVE 1A, INCLUDED
  DEAFNESS, AUTOSOMAL RECESSIVE, 1A (DFNB1A)
  HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, INCLUDED
  KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME (KID SYNDROME)
  KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
  KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
  KERATODERMA, PALMOPLANTAR, WITH DEAFNESS (PPKDFN)
  KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
  VOHWINKEL SYNDROME
  VOHWINKEL SYNDROME (VS)

72

21

30

2

61

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Default View: Connexin - pfam00029 CNX - smart00037 Connexin_CCC - pfam10582	Swiss-Prot Protein: P29033 Identical to: NP_003995 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CNX	smart00037	1.6e-21	42	75
Connexin_CCC	pfam10582	3.5e-47	146	213

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_069524	Polymorphism	p.ALA148PRO	N/A
Swiss-Prot	VAR_023615	Disease	p.ALA197SER	Deafness, autosomal dominant, 3A (DFNA3A)
Swiss-Prot	VAR_015940	Disease	p.ARG143GLN	Deafness, autosomal dominant, 3A (DFNA3A)
Swiss-Prot	VAR_023614	Disease	p.ARG184GLN	Deafness, autosomal dominant, 3A (DFNA3A)
Swiss-Prot	VAR_015936	Disease	p.ARG75GLN	Keratoderma, palmoplantar, with deafness (PPKDFN)
Swiss-Prot	VAR_015939	Polymorphism	p.ARG127HIS	N/A
Swiss-Prot	VAR_023605	Disease	p.ARG32HIS	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_016839	Polymorphism	p.ARG32LEU	N/A
Swiss-Prot	VAR_015943	Disease	p.ARG184PRO	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_015460	Disease	p.ARG143TRP	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_015942	Polymorphism	p.ARG165TRP	N/A
Swiss-Prot	VAR_009969	Disease	p.ARG184TRP	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_002140	Disease	p.ARG75TRP	Keratoderma, palmoplantar, with deafness (PPKDFN)
Swiss-Prot	VAR_032750	Disease	p.ASN54LYS	Bart-Pumphrey syndrome (BPS)
Swiss-Prot	VAR_032752	Disease	p.ASP179ASN	Deafness, autosomal dominant, 3A (DFNA3A)
Swiss-Prot	VAR_015456	Disease	p.ASP50ASN	Keratitis-ichthyosis-deafness syndrome (KID syndrome)
Swiss-Prot	VAR_060798	Disease	p.ASP46GLU	Deafness, autosomal dominant, 3A (DFNA3A)
Swiss-Prot	VAR_069519	Polymorphism	p.ASP117HIS	N/A
Swiss-Prot	VAR_008710	Disease	p.ASP66HIS	Vohwinkel syndrome (VS)
Swiss-Prot	VAR_015935	Disease	p.ASP50TYR	Keratitis-ichthyosis-deafness syndrome (KID syndrome)
Swiss-Prot	VAR_015941	Disease	p.ASP159VAL	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_015944	Disease	p.CYS202PHE	Deafness, autosomal dominant, 3A (DFNA3A)
Swiss-Prot	VAR_009968	Polymorphism	p.CYS169TYR	N/A
Swiss-Prot	VAR_023608	Disease	p.GLN80LYS	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_009966	Polymorphism	p.GLU114GLY	N/A
Swiss-Prot	VAR_023611	Disease	p.GLU129LYS	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_069520	Disease	p.GLY130ALA	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_009965	Disease	p.GLY59ALA	Keratoderma, palmoplantar, with deafness (PPKDFN)
Swiss-Prot	VAR_015453	Disease	p.GLY12ARG	Keratitis-ichthyosis-deafness syndrome (KID syndrome)
Swiss-Prot	VAR_069521	Disease	p.GLY130ASP	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_015455	Polymorphism	p.GLY45GLU	N/A
Swiss-Prot	VAR_002146	Polymorphism	p.GLY160SER	N/A
Swiss-Prot	VAR_032751	Disease	p.GLY59SER	Bart-Pumphrey syndrome (BPS)
Swiss-Prot	VAR_069522	Disease	p.GLY130VAL	Vohwinkel syndrome (VS)
Swiss-Prot	VAR_060799	Disease	p.HIS73ARG	Keratoderma, palmoplantar, with deafness (PPKDFN)
Swiss-Prot	VAR_023616	Disease	p.ILE203LYS	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_015938	Polymorphism	p.ILE111THR	N/A
Swiss-Prot	VAR_009970	Polymorphism	p.ILE203THR	N/A
Swiss-Prot	VAR_015457	Polymorphism	p.ILE71THR	N/A
Swiss-Prot	VAR_023617	Disease	p.LEU214PRO	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_023607	Disease	p.LEU79PRO	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_015937	Disease	p.LEU90PRO	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_057959	Polymorphism	p.LYS168ARG	N/A
Swiss-Prot	VAR_023609	Disease	p.MET93ILE	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_002138	Polymorphism	p.MET34THR	N/A
Swiss-Prot	VAR_015461	Polymorphism	p.PHE191LEU	N/A
Swiss-Prot	VAR_002142	Polymorphism	p.PHE83LEU	N/A
Swiss-Prot	VAR_002145	Disease	p.SER113ARG	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_015454	Disease	p.SER17PHE	Keratitis-ichthyosis-deafness syndrome (KID syndrome)
Swiss-Prot	VAR_015458	Disease	p.THR86ARG	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_015459	Polymorphism	p.THR123ASN	N/A
Swiss-Prot	VAR_002141	Disease	p.TRP77ARG	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_008709	Disease	p.TRP44CYS	Deafness, autosomal dominant, 3A (DFNA3A)
Swiss-Prot	VAR_032749	Disease	p.TRP44SER	Deafness, autosomal dominant, 3A (DFNA3A)
Swiss-Prot	VAR_023613	Disease	p.VAL178ALA	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_009967	Polymorphism	p.VAL153ILE	N/A
dbSNP	rs2274084	Polymorphism	p.VAL27ILE	N/A
dbSNP	rs72474224	Polymorphism	p.VAL37ILE	N/A
Swiss-Prot	VAR_002139	Disease	p.VAL37ILE	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_002143	Disease	p.VAL84LEU	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_023612	Polymorphism	p.VAL167MET	N/A
Swiss-Prot	VAR_060800	Disease	p.VAL84MET	Deafness, autosomal recessive, 1A (DFNB1A)
Swiss-Prot	VAR_002144	Disease	p.VAL95MET	Deafness, autosomal recessive, 1A (DFNB1A)
OMIM	121011.0017	Disease	p.ARG143GLN	DEAFNESS, AUTOSOMAL DOMINANT 3A\|\|DEAFNESS, AUTOSOMAL RECESSIVE 1A, INCLUDED
OMIM	121011.0039	Disease	p.ARG184GLN	DEAFNESS, AUTOSOMAL DOMINANT 3A
OMIM	121011.0026	Disease	p.ARG75GLN	KERATODERMA, PALMOPLANTAR, WITH DEAFNESS\|\|DEAFNESS, AUTOSOMAL DOMINANT 3A, INCLUDED
OMIM	121011.0008	Disease	p.ARG184PRO	DEAFNESS, AUTOSOMAL RECESSIVE 1A
OMIM	121011.0009	Disease	p.ARG143TRP	DEAFNESS, AUTOSOMAL RECESSIVE 1A
OMIM	121011.0011	Disease	p.ARG75TRP	DEAFNESS, AUTOSOMAL DOMINANT 3A
OMIM	121011.0030	Disease	p.ASN54LYS	KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
OMIM	121011.0028	Disease	p.ASP179ASN	DEAFNESS, AUTOSOMAL DOMINANT 3A
OMIM	121011.0020	Disease	p.ASP50ASN	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT\|\|HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, INCLUDED
OMIM	121011.0012	Disease	p.ASP66HIS	VOHWINKEL SYNDROME
OMIM	121011.0027	Disease	p.ASP50TYR	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
OMIM	121011.0024	Disease	p.ASP159VAL	DEAFNESS, AUTOSOMAL RECESSIVE 1A
OMIM	121011.0018	Disease	p.CYS202PHE	DEAFNESS, AUTOSOMAL DOMINANT 3A
OMIM	121011.0006	Disease	p.GLU47TER	DEAFNESS, AUTOSOMAL RECESSIVE 1A
OMIM	121011.0015	Disease	p.GLY59ALA	KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
OMIM	121011.0021	Disease	p.GLY12ARG	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
OMIM	121011.0033	Disease	p.GLY45GLU	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT\|\|DEAFNESS, AUTOSOMAL RECESSIVE 1A, INCLUDED
OMIM	121011.0035	Disease	p.GLY59SER	KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
OMIM	121011.0038	Disease	p.HIS73ARG	KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
OMIM	121011.0016	Disease	p.LEU90PRO	DEAFNESS, AUTOSOMAL RECESSIVE 1A
OMIM	121011.0001	Disease	p.MET34THR	DEAFNESS, AUTOSOMAL RECESSIVE 1A
OMIM	121011.0022	Disease	p.SER17PHE	KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
OMIM	121011.0004	Disease	p.TRP77ARG	DEAFNESS, AUTOSOMAL RECESSIVE 1A
OMIM	121011.0019	Disease	p.TRP44CYS	DEAFNESS, AUTOSOMAL DOMINANT 3A
OMIM	121011.0031	Disease	p.TRP44SER	DEAFNESS, AUTOSOMAL DOMINANT 3A
OMIM	121011.0003	Disease	p.TRP24TER	DEAFNESS, AUTOSOMAL RECESSIVE 1A
OMIM	121011.0002	Disease	p.TRP77TER	DEAFNESS, AUTOSOMAL RECESSIVE 1A
OMIM	121011.0023	Disease	p.VAL37ILE	DEAFNESS, AUTOSOMAL RECESSIVE 1A
OMIM	121011.0032	Disease	p.VAL84LEU	DEAFNESS, AUTOSOMAL RECESSIVE 1A
OMIM	121011.0037	Disease	p.VAL84MET	DEAFNESS, AUTOSOMAL RECESSIVE 1A

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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