Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P07741
114074
353

APT_HUMAN RecName: Full=Adenine phosphoribosyltransferase; Short=APRT

Known Diseases associated with this Protein:
  ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY (APRTD)
  APRT DEFICIENCY
  APRT DEFICIENCY, JAPANESE TYPE
12
1
4
0
9
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:

Apt - COG0503
Pribosyltran - pfam00156


Swiss-Prot Protein: P07741
Identical to: NP_000476
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AptCOG05032.2e-642180
Pribosyltranpfam001564.4e-2330157

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_006747Diseasep.ASP65VALAdenine phosphoribosyltransferase deficiency (APRTD)
Swiss-ProtVAR_022609Diseasep.CYS153ARGAdenine phosphoribosyltransferase deficiency (APRTD)
Swiss-ProtVAR_019055Polymorphismp.GLN121ARGN/A
Swiss-ProtVAR_069051Diseasep.GLY133ASPAdenine phosphoribosyltransferase deficiency (APRTD)
Swiss-ProtVAR_006748Diseasep.LEU110PROAdenine phosphoribosyltransferase deficiency (APRTD)
Swiss-ProtVAR_069049Diseasep.LEU33PROAdenine phosphoribosyltransferase deficiency (APRTD)
Swiss-ProtVAR_006749Diseasep.MET136THRAdenine phosphoribosyltransferase deficiency (APRTD)
Swiss-ProtVAR_069050Diseasep.VAL84METAdenine phosphoribosyltransferase deficiency (APRTD)
Swiss-ProtVAR_022608Diseasep.VAL150PHEAdenine phosphoribosyltransferase deficiency (APRTD)
OMIM102600.0004 Diseasep.ASP65VALAPRT DEFICIENCY
OMIM102600.0007 Diseasep.LEU110PROAPRT DEFICIENCY
OMIM102600.0003 Diseasep.MET136THRAPRT DEFICIENCY, JAPANESE TYPE
OMIM102600.0005 Diseasep.TRP98TERAPRT DEFICIENCY



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