Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P00374
118992

DYR_HUMAN RecName: Full=Dihydrofolate reductase

Known Diseases associated with this Protein:
  MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
  MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY (DHFRD)
4
0
2
0
2
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

FolA - COG0262
DHFR_1 - pfam00186
DHFR - cd00209


Swiss-Prot Protein: P00374
Identical to: NP_000782
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FolACOG02621.6e-344186
DHFRcd002097e-755184
DHFR_1pfam001863.8e-274185

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065819Diseasep.ASP153VALMegaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD)
Swiss-ProtVAR_065818Diseasep.LEU80PHEMegaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD)
OMIM126060.0002 Diseasep.ASP153VALMEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
OMIM126060.0001 Diseasep.LEU80PHEMEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258