Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q14353
2498404

GAMT_HUMAN RecName: Full=Guanidinoacetate N-methyltransferase

Known Diseases associated with this Protein:
  CEREBRAL CREATINE DEFICIENCY SYNDROME 2
  CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (CCDS2)
8
2
3
1
6
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:

AdoMet_MTases - cd02440


Swiss-Prot Protein: Q14353
Identical to: NP_000147
   Default View:



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_058105Diseasep.ALA54PROCerebral creatine deficiency syndrome 2 (CCDS2)
Swiss-ProtVAR_058106Diseasep.CYS169TYRCerebral creatine deficiency syndrome 2 (CCDS2)
Swiss-ProtVAR_058104Diseasep.HIS51PROCerebral creatine deficiency syndrome 2 (CCDS2)
Swiss-ProtVAR_058107Polymorphismp.LEU197PRON/A
Swiss-ProtVAR_058103Diseasep.MET50LEUCerebral creatine deficiency syndrome 2 (CCDS2)
dbSNPrs17851582 Polymorphismp.THR209METN/A
Swiss-ProtVAR_058102Diseasep.TRP20SERCerebral creatine deficiency syndrome 2 (CCDS2)
OMIM601240.0004 Diseasep.CYS169TYRCEREBRAL CREATINE DEFICIENCY SYNDROME 2
OMIM601240.0005 Diseasep.MET50LEUCEREBRAL CREATINE DEFICIENCY SYNDROME 2
OMIM601240.0003 Diseasep.TRP20SERCEREBRAL CREATINE DEFICIENCY SYNDROME 2



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