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Results for the Protein: P50440
1730201

GATM_HUMAN RecName: Full=Glycine amidinotransferase, mitochondrial; AltName: Full=L-arginine:glycine amidinotransferase; AltName: Full=Transamidinase; Flags: Precursor

Known Diseases associated with this Protein:
  CEREBRAL CREATINE DEFICIENCY SYNDROME 3
  CEREBRAL CREATINE DEFICIENCY SYNDROME 3 (CCDS3)
4
1
3
1
1
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Default View:

Amidinotransf - pfam02274
COG1834 - COG1834


Swiss-Prot Protein: P50440
Identical to: NP_001473
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG1834COG18345.8e-0674412
Amidinotransfpfam022740.0003170414

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1288775 Polymorphismp.GLN110HISN/A
Swiss-ProtVAR_069816Diseasep.TYR203SERCerebral creatine deficiency syndrome 3 (CCDS3)
OMIM602360.0003 Diseasep.ARG169TERCEREBRAL CREATINE DEFICIENCY SYNDROME 3
OMIM602360.0001 Diseasep.TRP149TERCEREBRAL CREATINE DEFICIENCY SYNDROME 3
OMIM602360.0005 Diseasep.TYR203SERCEREBRAL CREATINE DEFICIENCY SYNDROME 3



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