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Results for the Protein: Q5T442
74744875

CXG2_HUMAN RecName: Full=Gap junction gamma-2 protein; AltName: Full=Connexin-46.6; Short=Cx46.6; AltName: Full=Connexin-47; Short=Cx47; AltName: Full=Gap junction alpha-12 protein

Known Diseases associated with this Protein:
  LEUKODYSTROPHY, HYPOMYELINATING, 2
  LEUKODYSTROPHY, HYPOMYELINATING, 2 (HLD2)
  LYMPHEDEMA, HEREDITARY, 1C (LMPH1C)
  LYMPHEDEMA, HEREDITARY, IC
  SPASTIC PARAPLEGIA 44
  SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (SPG44)
14
4
8
0
10
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Default View:

Connexin - pfam00029
CNX - smart00037
Connexin_CCC - pfam10582


Swiss-Prot Protein: Q5T442
Identical to: NP_065168
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CNXsmart000374.2e-184578
Connexin_CCCpfam105828.1e-46223289

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063880Diseasep.ARG260CYSLymphedema, hereditary, 1C (LMPH1C)
Swiss-ProtVAR_063878Polymorphismp.ARG125GLNN/A
Swiss-ProtVAR_063879Polymorphismp.GLY149SERN/A
Swiss-ProtVAR_063876Polymorphismp.HIS19PRON/A
Swiss-ProtVAR_063172Diseasep.ILE36METSpastic paraplegia 44, autosomal recessive (SPG44)
Swiss-ProtVAR_023756Diseasep.MET286THRLeukodystrophy, hypomyelinating, 2 (HLD2)
Swiss-ProtVAR_063881Polymorphismp.PRO316LEUN/A
Swiss-ProtVAR_023754Diseasep.PRO90SERLeukodystrophy, hypomyelinating, 2 (HLD2)
Swiss-ProtVAR_063877Diseasep.SER48LEULymphedema, hereditary, 1C (LMPH1C)
Swiss-ProtVAR_023755Diseasep.TYR272ASPLeukodystrophy, hypomyelinating, 2 (HLD2)
OMIM608803.0010 Diseasep.ARG260CYSLYMPHEDEMA, HEREDITARY, IC
OMIM608803.0004 Diseasep.ARG240TERLEUKODYSTROPHY, HYPOMYELINATING, 2
OMIM608803.0012 Diseasep.GLU263LYSLEUKODYSTROPHY, HYPOMYELINATING, 2
OMIM608803.0008 Diseasep.ILE33METSPASTIC PARAPLEGIA 44
OMIM608803.0001 Diseasep.MET286THRLEUKODYSTROPHY, HYPOMYELINATING, 2
OMIM608803.0002 Diseasep.PRO90SERLEUKODYSTROPHY, HYPOMYELINATING, 2
OMIM608803.0009 Diseasep.SER48LEULYMPHEDEMA, HEREDITARY, IC
OMIM608803.0005 Diseasep.TYR272ASPLEUKODYSTROPHY, HYPOMYELINATING, 2



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