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Results for the Protein: Q8NCH0
61211839

CHSTE_HUMAN RecName: Full=Carbohydrate sulfotransferase 14; AltName: Full=Dermatan 4-sulfotransferase 1; Short=D4ST-1; Short=hD4ST1

Known Diseases associated with this Protein:
  EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1
  EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (EDSMC1)
14
0
8
0
6
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Swiss-Prot Protein: Q8NCH0
Identical to: NP_569735
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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-ProtVAR_063754Diseasep.ARG135GLYEhlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)
Swiss-ProtVAR_063756Diseasep.ARG213PROEhlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)
Swiss-ProtVAR_064556Diseasep.CYS289SEREhlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)
Swiss-ProtVAR_063755Diseasep.LEU137GLNEhlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)
Swiss-ProtVAR_064555Diseasep.PRO281LEUEhlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)
Swiss-ProtVAR_063757Diseasep.TYR293CYSEhlers-Danlos syndrome, musculocontractural type 1 (EDSMC1)
OMIM608429.0003 Diseasep.ARG135GLYEHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1
OMIM608429.0002 Diseasep.ARG213PROEHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1
OMIM608429.0009 Diseasep.ARG274PROEHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1
OMIM608429.0007 Diseasep.CYS289SEREHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1
OMIM608429.0003 Diseasep.LEU137GLNEHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1
OMIM608429.0006 Diseasep.LYS69TEREHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1
OMIM608429.0005 Diseasep.PRO281LEUEHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1
OMIM608429.0004 Diseasep.TYR293CYSEHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1



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