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Results for the Protein: NP_001158184
257796258
275
AMT

aminomethyltransferase, mitochondrial isoform 4 [Homo sapiens]

Known Diseases associated with this Protein:
  GLYCINE ENCEPHALOPATHY
6
0
6
0
0
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Default View:

GcvT - COG0404
GCV_T - pfam01571
GCV_T_C - pfam08669




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GcvTCOG04049.3e-11629386
GCV_Tpfam015713.8e-7778291
GCV_T_Cpfam086696.2e-23300386

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
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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