Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q8TEQ8
61252289

PIGO_HUMAN RecName: Full=GPI ethanolamine phosphate transferase 3; AltName: Full=Phosphatidylinositol-glycan biosynthesis class O protein; Short=PIG-O

Known Diseases associated with this Protein:
  HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
  HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 (HPMRS2)
2
1
1
0
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:

COG1524 - COG1524
Phosphodiest - pfam01663


Swiss-Prot Protein: Q8TEQ8
Identical to: NP_116023
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Phosphodiestpfam016630.0001470382

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_036332Polymorphismp.LEU686METN/A
Swiss-ProtVAR_068809Diseasep.LEU957PHEHyperphosphatasia with mental retardation syndrome 2 (HPMRS2)
OMIM614730.0001 Diseasep.LEU957PHEHYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2



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