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In support of this, mutations in ATP13A2 have been associated with neuronal ceroid lipofuscinosis, a lysosomal storage disorder, in humans and dogs (11– 13) and lysosomal dysfunction in KRS-patient-derived cell models (8, 14).
In support of this, mutations in the T-stem of tRNAVal that dissociate faster from EF-Tu than wild-type tRNAVal had the same values of kpep as that of wild-type tRNAVal, consistent with the idea that kpep is limited by the subsequent slower accommodation step in both cases.
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"We prospered because of this mutation," Perdew said.
But we cannot grasp the full psychological impact of this "mutation in human nature" in purely secular terms.
The prevalence of this mutation in other parts of the world is currently unknown.
This is the first report of detection of this mutation in the Ecuadorian population.
In other countries, the frequency of this mutation is thought to be low.
Further studies are ongoing to refute or corroborate the potentially dominant effect of this mutation.
Due to clinical importance of this mutation, easy and sensitive tests are needed to be developed.
A MYOSCN4A mutation I582V shows a hyperpolarizing shift of 6 mV, indicating the nature of this mutation be also gain-of-function (Corrochano et al., 2014).
Defining the presence or absence of this mutation is an essential part of clinical diagnostic algorithms and patient management.
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