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Results for the Protein: P42898
56405339

MTHR_HUMAN RecName: Full=Methylenetetrahydrofolate reductase

Known Diseases associated with this Protein:
  HOMOCYSTEINURIA DUE TO MTHFR DEFICIENCY
  HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
  METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY (MTHFRD)
20
12
5
4
23
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Default View:

MetF - COG0685
MTHFR - pfam02219
MTHFR - cd00537


Swiss-Prot Protein: P42898
Identical to: NP_005948
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MetFCOG06851.9e-9145340
MTHFRcd005371e-12960336
MTHFRpfam022191.8e-19149337

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1801133 Polymorphismp.ALA222VALN/A
Swiss-ProtVAR_004323Diseasep.ARG325CYSMethylenetetrahydrofolate reductase deficiency (MTHFRD)
Swiss-ProtVAR_004324Diseasep.ARG335CYSMethylenetetrahydrofolate reductase deficiency (MTHFRD)
Swiss-ProtVAR_004325Diseasep.ARG357CYSMethylenetetrahydrofolate reductase deficiency (MTHFRD)
Swiss-ProtVAR_009534Diseasep.ARG377CYSMethylenetetrahydrofolate reductase deficiency (MTHFRD)
Swiss-ProtVAR_018858Polymorphismp.ARG519CYSN/A
Swiss-ProtVAR_004320Diseasep.ARG157GLNMethylenetetrahydrofolate reductase deficiency (MTHFRD)
Swiss-ProtVAR_004319Diseasep.ARG52GLNMethylenetetrahydrofolate reductase deficiency (MTHFRD)
dbSNPrs2274976 Polymorphismp.ARG594GLNN/A
Swiss-ProtVAR_014881Polymorphismp.ARG68GLNN/A
Swiss-ProtVAR_050293Polymorphismp.ARG519HISN/A
Swiss-ProtVAR_009530Diseasep.ARG51PROMethylenetetrahydrofolate reductase deficiency (MTHFRD)
Swiss-ProtVAR_009532Diseasep.ASN324SERMethylenetetrahydrofolate reductase deficiency (MTHFRD)
Swiss-ProtVAR_009529Polymorphismp.GLU428ALAN/A
dbSNPrs1801131 Polymorphismp.GLU429ALAN/A
Swiss-ProtVAR_054158Polymorphismp.GLU470ALAN/A
Swiss-ProtVAR_009537Diseasep.GLU586LYSMethylenetetrahydrofolate reductase deficiency (MTHFRD)
Swiss-ProtVAR_018857Polymorphismp.GLY422ARGN/A
Swiss-ProtVAR_009535Diseasep.GLY387ASPMethylenetetrahydrofolate reductase deficiency (MTHFRD)
Swiss-ProtVAR_050294Polymorphismp.GLY566GLUN/A
Swiss-ProtVAR_009531Diseasep.LEU323PROMethylenetetrahydrofolate reductase deficiency (MTHFRD)
Swiss-ProtVAR_004322Diseasep.PRO251LEUMethylenetetrahydrofolate reductase deficiency (MTHFRD)
Swiss-ProtVAR_009536Diseasep.PRO572LEUMethylenetetrahydrofolate reductase deficiency (MTHFRD)
dbSNPrs72552099 Polymorphismp.SER430ARGN/A
Swiss-ProtVAR_004321Diseasep.THR227METMethylenetetrahydrofolate reductase deficiency (MTHFRD)
Swiss-ProtVAR_018860Polymorphismp.THR653METN/A
Swiss-ProtVAR_009533Diseasep.TRP339GLYMethylenetetrahydrofolate reductase deficiency (MTHFRD)
OMIM607093.0011 Diseasep.ARG377CYSHOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
OMIM607093.0002 Diseasep.ARG158GLNHOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
OMIM607093.0001 Diseasep.ARG184TERHOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
OMIM607093.0012 Diseasep.LEU323PROHOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
OMIM607093.0010 Diseasep.MET581ILEHOMOCYSTEINURIA DUE TO MTHFR DEFICIENCY



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