Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P47989
2506326
XDH

XDH_HUMAN RecName: Full=Xanthine dehydrogenase/oxidase; Includes: RecName: Full=Xanthine dehydrogenase; Short=XD; Includes: RecName: Full=Xanthine oxidase; Short=XO; AltName: Full=Xanthine oxidoreductase; Short=XOR

Known Diseases associated with this Protein:
  XANTHINURIA 1 (XU1)
  XANTHINURIA, TYPE I
3
19
2
6
14
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:

XdhA - COG4630
CoxS - COG2080
fer2 - cd00207
Fer2 - pfam00111
Fer2_2 - pfam01799
CoxM - COG1319
FAD_binding_5 - pfam00941
CO_deh_flav_C - pfam03450
XdhB - COG4631
CoxL - COG1529
Ald_Xan_dh_C - pfam01315
Ald_Xan_dh_C2 - pfam02738


Swiss-Prot Protein: P47989
Identical to: NP_000370
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
fer2cd002071.8e-12686
CoxMCOG13191.4e-08229528
CoxLCOG15291e-895691312
XdhACOG46302e-741534
CoxSCOG20803.1e-443166
Fer2pfam001112.3e-13878
Fer2_2pfam017994.3e-4087162
FAD_binding_5pfam009418.5e-76232412
CO_deh_flav_Cpfam034504.5e-29419523
XdhBCOG46319.9e-2905511319
Ald_Xan_dh_Cpfam013159.4e-55588694
Ald_Xan_dh_C2pfam027387021237

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_023990Polymorphismp.ARG1176CYSN/A
Swiss-ProtVAR_045900Diseasep.ARG149CYSXanthinuria 1 (XU1)
Swiss-ProtVAR_023982Polymorphismp.ARG607GLNN/A
Swiss-ProtVAR_035900Polymorphismp.ARG791GLYN/A
dbSNPrs45564939 Polymorphismp.ARG1296TRPN/A
Swiss-ProtVAR_023989Polymorphismp.ASN1109THRN/A
dbSNPrs45491693 Polymorphismp.ASP584ALAN/A
dbSNPrs45447191 Polymorphismp.GLU133LYSN/A
dbSNPrs45523133 Polymorphismp.GLY172ARGN/A
Swiss-ProtVAR_023985Polymorphismp.ILE646VALN/A
dbSNPrs17011368 Polymorphismp.ILE703VALN/A
Swiss-ProtVAR_035899Polymorphismp.LEU763PHEN/A
Swiss-ProtVAR_023983Polymorphismp.LYS617ASNN/A
dbSNPrs34929837 Polymorphismp.LYS395METN/A
Swiss-ProtVAR_045901Polymorphismp.PRO1150ARGN/A
Swiss-ProtVAR_023980Polymorphismp.PRO555SERN/A
Swiss-ProtVAR_023984Polymorphismp.THR623ILEN/A
Swiss-ProtVAR_023978Polymorphismp.THR235METN/A
Swiss-ProtVAR_023987Polymorphismp.THR910METN/A
Swiss-ProtVAR_023988Polymorphismp.VAL1091LEUN/A
OMIM607633.0003 Diseasep.ARG149CYSXANTHINURIA, TYPE I
OMIM607633.0001 Diseasep.ARG228TERXANTHINURIA, TYPE I



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