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 (Comment) | Organism |
---|---|
- |
Homo sapiens |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P11310 | - |
- |
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 |