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Results for the Protein: P52429
1708625

DGKE_HUMAN RecName: Full=Diacylglycerol kinase epsilon; Short=DAG kinase epsilon; AltName: Full=Diglyceride kinase epsilon; Short=DGK-epsilon

Known Diseases associated with this Protein:
  HEMOLYTIC UREMIC SYNDROME ATYPICAL 7 (AHUS7)
  HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7
  NEPHROTIC SYNDROME, TYPE 7
7
1
5
0
3
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Default View:

C1 - cd00029
C1 - smart00109
C1_1 - pfam00130
DAGK_cat - pfam00781
DAGKc - smart00046
DAGKa - smart00045
DAGK_acc - pfam00609


Swiss-Prot Protein: P52429
Identical to: NP_003638
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
C1cd000296.9e-1060108
C1cd000291.6e-09125177
C1_1pfam001308.1e-1260109
C1_1pfam001301e-13125178
DAGK_catpfam007811.3e-35219348
DAGK_accpfam006093e-82369524
C1smart001096.8e-0760108
C1smart001095.1e-09125177
DAGKcsmart000464.1e-56221349
DAGKasmart000452.7e-94369524

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069805Diseasep.ARG273PROHemolytic uremic syndrome atypical 7 (AHUS7)
Swiss-ProtVAR_069804Diseasep.ARG63PROHemolytic uremic syndrome atypical 7 (AHUS7)
Swiss-ProtVAR_036120Polymorphismp.LEU99ARGN/A
OMIM601440.0008 Diseasep.ARG273PROHEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7
OMIM601440.0006 Diseasep.ARG63PROHEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7
OMIM601440.0001 Diseasep.GLN43TERNEPHROTIC SYNDROME, TYPE 7
OMIM601440.0007 Diseasep.SER11TERHEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7
OMIM601440.0004 Diseasep.TRP322TERHEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7



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