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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
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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 ↕
COG1524COG15248.9e-1328563
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



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