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Results for the Protein: Q7LGC8
116241297

CHST3_HUMAN RecName: Full=Carbohydrate sulfotransferase 3; AltName: Full=Chondroitin 6-O-sulfotransferase 1; Short=C6ST-1; AltName: Full=Chondroitin 6-sulfotransferase; AltName: Full=Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0; Short=GST-0

Known Diseases associated with this Protein:
  SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
  SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (SEDC-JD)
16
2
11
1
6
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Swiss-Prot Protein: Q7LGC8
Identical to: NP_004264
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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_021413Diseasep.ARG304GLNSpondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)
dbSNPrs3740129 Polymorphismp.ARG357GLNN/A
Swiss-ProtVAR_047856Diseasep.ARG222TRPSpondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)
Swiss-ProtVAR_047859Diseasep.GLU372LYSSpondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)
Swiss-ProtVAR_021414Polymorphismp.ILE348METN/A
Swiss-ProtVAR_047857Diseasep.LEU259PROSpondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)
Swiss-ProtVAR_047858Diseasep.LEU307PROSpondyloepiphyseal dysplasia with congenital joint dislocations (SEDC-JD)
OMIM603799.0001 Diseasep.ARG304GLNSPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
OMIM603799.0003 Diseasep.ARG222TRPSPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
OMIM603799.0012 Diseasep.GLN330TERSPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
OMIM603799.0008 Diseasep.GLU372LYSSPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
OMIM603799.0011 Diseasep.LEU161PHESPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
OMIM603799.0002 Diseasep.LEU259PROSPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
OMIM603799.0007 Diseasep.LEU286PROSPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
OMIM603799.0004 Diseasep.LEU307PROSPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
OMIM603799.0010 Diseasep.PHE159ILESPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
OMIM603799.0009 Diseasep.THR141METSPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
OMIM603799.0006 Diseasep.TYR201TERSPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS



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