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Results for the Protein: Q9UI17
296434575

M2GD_HUMAN RecName: Full=Dimethylglycine dehydrogenase, mitochondrial; AltName: Full=ME2GLYDH; Flags: Precursor

Known Diseases associated with this Protein:
  DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY
  DMGDH DEFICIENCY (DMGDHD)
2
3
1
3
1
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Default View:

GlpA - COG0578
DadA - COG0665
COG0579 - COG0579
DAO - pfam01266
GcvT - COG0404
GCV_T - pfam01571
GCV_T_C - pfam08669


Swiss-Prot Protein: Q9UI17
Identical to: NP_037523
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GlpACOG05780.0001942535
DadACOG06653.5e-8246446
COG0579COG05791.9e-0647448
GcvTCOG04043.8e-117465859
DAOpfam012663.3e-8551414
GCV_Tpfam015718.2e-79531745
GCV_T_Cpfam086691.5e-32752845

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1805073 Polymorphismp.ALA530GLYN/A
Swiss-ProtVAR_011505Diseasep.HIS109ARGDMGDH deficiency (DMGDHD)
dbSNPrs532964 Polymorphismp.SER279PRON/A
dbSNPrs1805074 Polymorphismp.SER646PRON/A
OMIM605849.0001 Diseasep.HIS81ARGDIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY



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