Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P35520
543959
875
CBS

CBS_HUMAN RecName: Full=Cystathionine beta-synthase; AltName: Full=Beta-thionase; AltName: Full=Serine sulfhydrase

Known Diseases associated with this Protein:
  CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (CBSD)
  HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE
  HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
  HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED
114
3
15
1
101
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

CBS - smart00116




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_008079Diseasep.ALA331GLUCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_046929Diseasep.ALA231PROCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_046932Diseasep.ALA288PROCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_021800Diseasep.ALA355PROCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_046922Polymorphismp.ALA69PRON/A
Swiss-ProtVAR_066103Diseasep.ALA446SERCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008065Diseasep.ALA155THRCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008070Diseasep.ALA226THRCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_046933Diseasep.ALA288THRCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_046934Diseasep.ALA361THRCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002174Diseasep.ALA114VALCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_046925Diseasep.ALA155VALCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002187Diseasep.ALA331VALCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008054Diseasep.ARG121CYSCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_046921Polymorphismp.ARG18CYSN/A
Swiss-ProtVAR_002188Diseasep.ARG336CYSCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008084Diseasep.ARG369CYSCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008092Diseasep.ARG491CYSCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002175Diseasep.ARG125GLNCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_021801Diseasep.ARG379GLNCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008090Diseasep.ARG439GLNCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_046938Polymorphismp.ARG548GLNN/A
Swiss-ProtVAR_008073Diseasep.ARG266GLYCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008055Diseasep.ARG121HISCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002181Diseasep.ARG224HISCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008080Diseasep.ARG336HISCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002189Diseasep.ARG369HISCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008056Diseasep.ARG121LEUCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008074Diseasep.ARG266LYSCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_046923Diseasep.ARG125PROCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008057Diseasep.ARG125TRPCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_046936Diseasep.ARG379TRPCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008050Diseasep.ARG58TRPCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_021794Diseasep.ASN228LYSCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_046928Diseasep.ASN228SERCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008071Diseasep.ASP234ASNCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_066101Diseasep.ASP281ASNCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_046935Diseasep.ASP376ASNCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002192Diseasep.ASP444ASNCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008069Diseasep.ASP198VALCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_066102Diseasep.ASP321VALCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_021792Diseasep.CYS109ARGCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002179Diseasep.CYS165TYRCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_021796Diseasep.CYS275TYRCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008085Diseasep.CYS370TYRCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_046937Diseasep.GLN526LYSCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008059Diseasep.GLU128ASPCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002176Diseasep.GLU131ASPCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002177Diseasep.GLU144LYSCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008066Diseasep.GLU176LYSCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002182Diseasep.GLU239LYSCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008076Diseasep.GLU302LYSCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008053Diseasep.GLY116ARGCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008060Diseasep.GLY139ARGCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008061Diseasep.GLY148ARGCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008062Diseasep.GLY151ARGCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008077Diseasep.GLY305ARGCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008051Diseasep.GLY85ARGCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002186Diseasep.GLY307SERCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_021798Diseasep.GLY347SERCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_021790Diseasep.HIS65ARGCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_021793Diseasep.ILE143METCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008064Diseasep.ILE152METCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_066100Diseasep.ILE278SERCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002184Diseasep.ILE278THRCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008089Diseasep.ILE435THRCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_046924Diseasep.LEU154GLNCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_021791Diseasep.LEU101PROCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_021797Diseasep.LEU338PROCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_021803Diseasep.LEU456PROCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002194Diseasep.LEU539SERCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002173Diseasep.LYS102ASNCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008086Diseasep.LYS384ASNCystathionine beta-synthase deficiency (CBSD)
dbSNPrs34040148 Diseasep.LYS102GLNCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002191Diseasep.LYS384GLUCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008087Diseasep.MET391ILECystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008058Diseasep.MET126VALCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_046927Diseasep.MET173VALCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002171Diseasep.PRO78ARGCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002178Diseasep.PRO145LEUCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_066099Diseasep.PRO200LEUCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002185Diseasep.PRO290LEUCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_021802Diseasep.PRO422LEUCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008049Diseasep.PRO49LEUCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002172Diseasep.PRO88SERCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_021799Diseasep.SER349ASNCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008081Diseasep.SER352ASNCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008091Diseasep.SER466LEUCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_021795Diseasep.THR262ARGCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008088Diseasep.THR434ASNCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008068Diseasep.THR191METCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002183Diseasep.THR257METCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008072Diseasep.THR262METCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008082Diseasep.THR353METCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_046926Diseasep.VAL168ALACystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008067Diseasep.VAL180ALACystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008078Diseasep.VAL320ALACystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008093Diseasep.VAL534ASPCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002193Diseasep.VAL454GLUCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002180Diseasep.VAL168METCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_008083Diseasep.VAL354METCystathionine beta-synthase deficiency (CBSD)
Swiss-ProtVAR_002190Diseasep.VAL371METCystathionine beta-synthase deficiency (CBSD)
OMIM613381.0003 Diseasep.ALA114VALHOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
OMIM613381.0009 Diseasep.ARG266LYSHOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
OMIM613381.0010 Diseasep.ASP444ASNHOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED
OMIM613381.0006 Diseasep.GLU144LYSHOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
OMIM613381.0005 Diseasep.GLY139ARGHOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
OMIM613381.0001 Diseasep.GLY307SERHOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED
OMIM613381.0004 Diseasep.ILE278THRHOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED
OMIM613381.0008 Diseasep.LEU539SERHOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
OMIM613381.0007 Diseasep.LYS384GLUHOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
OMIM613381.0002 Diseasep.PRO145LEUHOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE
OMIM613381.0013 Diseasep.PRO422LEUHYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
OMIM613381.0014 Diseasep.SER466LEUHYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
OMIM613381.0016 Diseasep.THR191METHOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE
OMIM613381.0015 Diseasep.THR353METHOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE
OMIM613381.0011 Diseasep.VAL168METHOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258