Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q86Y38
71164803

XYLT1_HUMAN RecName: Full=Xylosyltransferase 1; AltName: Full=Peptide O-xylosyltransferase 1; AltName: Full=Xylosyltransferase I; Short=XT-I; Short=XylT-I

Known Diseases associated with this Protein:
  PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
1
6
1
4
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:

Xylo_C - pfam12529


Swiss-Prot Protein: Q86Y38
Identical to: NP_071449
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Xylo_Cpfam125296.4e-105613794

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs113276942 Polymorphismp.ALA223GLYN/A
dbSNPrs35309694 Polymorphismp.ARG892GLNN/A
Swiss-ProtVAR_049325Polymorphismp.PRO766ALAN/A
Swiss-ProtVAR_049324Polymorphismp.PRO325ARGN/A
dbSNPrs79030430 Polymorphismp.THR665METN/A
dbSNPrs7200466 Polymorphismp.VAL839ILEN/A
OMIM608124.0001 Diseasep.ALA115SERPSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF



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