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Results for the Protein: P48728
1346122
275
AMT

GCST_HUMAN RecName: Full=Aminomethyltransferase, mitochondrial; AltName: Full=Glycine cleavage system T protein; Short=GCVT; Flags: Precursor

Known Diseases associated with this Protein:
  GLYCINE ENCEPHALOPATHY
  NON-KETOTIC HYPERGLYCINEMIA (NKH)
13
0
6
0
7
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Default View:

GcvT - COG0404
GCV_T - pfam01571
GCV_T_C - pfam08669


Swiss-Prot Protein: P48728
Identical to: NP_000472
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GcvTCOG04045.7e-12829403
GCV_Tpfam015713.8e-7778291
GCV_T_Cpfam086697e-32300392

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_007955Diseasep.ARG320HISNon-ketotic hyperglycinemia (NKH)
Swiss-ProtVAR_016847Diseasep.ASN145ILENon-ketotic hyperglycinemia (NKH)
Swiss-ProtVAR_007954Diseasep.ASP276HISNon-ketotic hyperglycinemia (NKH)
Swiss-ProtVAR_016848Diseasep.GLU211LYSNon-ketotic hyperglycinemia (NKH)
Swiss-ProtVAR_007952Diseasep.GLY47ARGNon-ketotic hyperglycinemia (NKH)
Swiss-ProtVAR_007953Diseasep.GLY269ASPNon-ketotic hyperglycinemia (NKH)
Swiss-ProtVAR_007951Diseasep.HIS42ARGNon-ketotic hyperglycinemia (NKH)
OMIM238310.0006 Diseasep.ARG320HISGLYCINE ENCEPHALOPATHY
OMIM238310.0005 Diseasep.ASP276HISGLYCINE ENCEPHALOPATHY
OMIM238310.0007 Diseasep.GLN192TERGLYCINE ENCEPHALOPATHY
OMIM238310.0002 Diseasep.GLY47ARGGLYCINE ENCEPHALOPATHY
OMIM238310.0001 Diseasep.GLY269ASPGLYCINE ENCEPHALOPATHY
OMIM238310.0003 Diseasep.HIS42ARGGLYCINE ENCEPHALOPATHY



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