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Literature summary for 2.7.1.36 extracted from

  • Houten, S.M.; Frenkel, J.; Rijkers, G.T.; Wanders, R.J.; Kuis, W.; Waterham, H.R.
    Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome (2002), Hum. Mol. Genet., 11, 3115-3124.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
I268T leads in homozygous state to mevalonic aciduria, inactive mevalonate kinase Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Temperature Stability [°C]

Temperature Stability Minimum [°C] Temperature Stability Maximum [°C] Comment Organism
37
-
approx. 50% and 70% loss of activity after 40 min and 90 min, respectively, H20P/V377I double mutant is only slightly more temperature sensitive Homo sapiens
50
-
approx. 50% and 90% loss of activity after 10 min and 30 min, respectively, H20P/V377I double mutant is only slightly more temperature sensitive Homo sapiens