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Results for the Protein: Q53H12
116248550
AGK

AGK_HUMAN RecName: Full=Acylglycerol kinase, mitochondrial; Short=hAGK; AltName: Full=Multiple substrate lipid kinase; Short=HsMuLK; Short=MuLK; Short=Multi-substrate lipid kinase; Flags: Precursor

Known Diseases associated with this Protein:
  SENGERS SYNDROME
6
1
6
0
1
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Default View:

LCB5 - COG1597
DAGK_cat - pfam00781
DAGKc - smart00046


Swiss-Prot Protein: Q53H12
Identical to: NP_060708
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DAGK_catpfam007811.1e-2562191
DAGKcsmart000462e-0664192

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_027848Polymorphismp.VAL3METN/A
OMIM610345.0007 Diseasep.ARG281TERSENGERS SYNDROME
OMIM610345.0005 Diseasep.GLN173TERSENGERS SYNDROME
OMIM610345.0004 Diseasep.MET1ILESENGERS SYNDROME
OMIM610345.0006 Diseasep.TYR102TERSENGERS SYNDROME
OMIM610345.0008 Diseasep.TYR224TERSENGERS SYNDROME
OMIM610345.0002 Diseasep.TYR390TERSENGERS SYNDROME



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