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Literature summary for 1.3.8.7 extracted from

  • Jank, J.M.; Maier, E.M.; Reiss, D.D.; Haslbeck, M.; Kemter, K.F.; Truger, M.S.; Sommerhoff, C.P.; Ferdinandusse, S.; Wanders, R.J.; Gersting, S.W.; Muntau, A.C.
    The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase (2014), PLoS ONE, 9, e93852 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 1.3.8.7

Application

Application Comment Organism
medicine mutations in the ACADM gene identified in newborn lower the temperature threshold at which loss-of-function occurs. Increased temperature as it occurs during intercurrent infections, significantly increases the risk of further conformational derangement and loss of function of the enzyme, explaining the life-threatening clinical courses observed during fever episodes Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
-
 Homo sapiens

Protein Variants

Protein Variants Comment Organism
A52V mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs Homo sapiens
D266G mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs Homo sapiens
K329E mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs Homo sapiens
R206C mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs Homo sapiens
R334K mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs Homo sapiens
R413S mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs Homo sapiens
Y158H mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs Homo sapiens
Y67H mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P11310
-
-

Temperature Stability [°C]

Temperature Stability Minimum [°C] Temperature Stability Maximum [°C] Comment Organism
44.5
-
 melting temperature, mutant Y158H Homo sapiens
50
-
 melting temperature, mutant R206C Homo sapiens
52
-
 melting temperature, mutant A52V Homo sapiens
52
-
 melting temperature, mutant R413S Homo sapiens
52.5
-
 melting temperature, mutant Y67H Homo sapiens
53.5
-
 melting temperature, mutant D266G Homo sapiens
53.5
-
 melting temperature, mutant R334K Homo sapiens
54
-
 melting temperature, mutant K329E Homo sapiens
56.5
-
 melting temperature, wild-type Homo sapiens