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Results for the Protein: Q96NT5
74732636

PCFT_HUMAN RecName: Full=Proton-coupled folate transporter; AltName: Full=G21; AltName: Full=Heme carrier protein 1; AltName: Full=PCFT/HCP1; AltName: Full=Solute carrier family 46 member 1

Known Diseases associated with this Protein:
  FOLATE MALABSORPTION, HEREDITARY
  HEREDITARY FOLATE MALABSORPTION (HFM)
16
2
6
1
11
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Default View:

MFS - cd06174
MFS_1 - pfam07690
AraJ - COG2814


Swiss-Prot Protein: Q96NT5
Identical to: NP_542400
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MFScd061743.2e-3322444
AraJCOG28140.0001773452
MFS_1pfam076906.8e-0725407

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067961Diseasep.ALA335ASPHereditary folate malabsorption (HFM)
Swiss-ProtVAR_058210Diseasep.ARG113CYSHereditary folate malabsorption (HFM)
Swiss-ProtVAR_067963Diseasep.ARG376GLNHereditary folate malabsorption (HFM)
Swiss-ProtVAR_032825Diseasep.ARG113SERHereditary folate malabsorption (HFM)
dbSNPrs41297071 Polymorphismp.ARG63SERN/A
Swiss-ProtVAR_032828Diseasep.ARG376TRPHereditary folate malabsorption (HFM)
Swiss-ProtVAR_067960Diseasep.ASP156TYRHereditary folate malabsorption (HFM)
Swiss-ProtVAR_032826Diseasep.GLY147ARGHereditary folate malabsorption (HFM)
Swiss-ProtVAR_067962Diseasep.GLY338ARGHereditary folate malabsorption (HFM)
Swiss-ProtVAR_032829Diseasep.PRO425ARGHereditary folate malabsorption (HFM)
Swiss-ProtVAR_032827Diseasep.SER318ARGHereditary folate malabsorption (HFM)
Swiss-ProtVAR_050302Polymorphismp.THR295ALAN/A
OMIM611672.0008 Diseasep.ALA335ASPFOLATE MALABSORPTION, HEREDITARY
OMIM611672.0006 Diseasep.ARG113CYSFOLATE MALABSORPTION, HEREDITARY
OMIM611672.0003 Diseasep.ARG113SERFOLATE MALABSORPTION, HEREDITARY
OMIM611672.0005 Diseasep.ARG376TRPFOLATE MALABSORPTION, HEREDITARY
OMIM611672.0010 Diseasep.GLY338ARGFOLATE MALABSORPTION, HEREDITARY
OMIM611672.0004 Diseasep.SER318ARGFOLATE MALABSORPTION, HEREDITARY



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