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Results for the Protein: P43251
226693503
686
BTD

BTD_HUMAN RecName: Full=Biotinidase; Short=Biotinase; Flags: Precursor

Known Diseases associated with this Protein:
  BIOTINIDASE DEFICIENCY (BTD DEFICIENCY)
9
1
0
1
9
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Default View:

biotinidase_like - cd07567
COG0388 - COG0388
CN_hydrolase - pfam00795
nitrilase - cd07197


Swiss-Prot Protein: P43251
Identical to: NP_000051
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
biotinidase_likecd075677.1e-17858361
COG0388COG03880.0001770379
nitrilasecd071972.8e-1874357
CN_hydrolasepfam007950.000373271

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_005114Diseasep.ALA171THRBiotinidase deficiency (BTD deficiency)
Swiss-ProtVAR_005121Diseasep.ARG538CYSBiotinidase deficiency (BTD deficiency)
Swiss-ProtVAR_005117Diseasep.ASP444HISBiotinidase deficiency (BTD deficiency)
Swiss-ProtVAR_005115Diseasep.ASP228TYRBiotinidase deficiency (BTD deficiency)
Swiss-ProtVAR_005119Diseasep.GLN456HISBiotinidase deficiency (BTD deficiency)
Swiss-ProtVAR_005118Diseasep.GLY451ASPBiotinidase deficiency (BTD deficiency)
Swiss-ProtVAR_005116Diseasep.HIS323ARGBiotinidase deficiency (BTD deficiency)
Swiss-ProtVAR_005113Diseasep.PHE128VALBiotinidase deficiency (BTD deficiency)
dbSNPrs35034250 Polymorphismp.PRO391SERN/A
Swiss-ProtVAR_005120Diseasep.THR532METBiotinidase deficiency (BTD deficiency)



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