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Altogether, our data demonstrated that a single N51-to-A mutation located in close vicinity to the putative catalytic pocket abolished the ability of hAID to deaminate C while maintaining the enzyme's activity on 5 mC.
We demonstrate that the GAERS missense mutation located in the Cav3.2 III-IV linker alters the Cav3.2/calnexin interaction, resulting in an increased surface expression of the channel and a concomitant elevation in calcium influx.
She speculates that the culprit may be a mutation located in a genome region that regulates activity of the IL-33 gene.
A mutation located in exon 10 has been identified in several FTDP-17 families that present with increased exon 10 inclusion in both mRNA and protein, parkinsonism, movement disorders, and dementia.
The primary attenuating factor common to all three Sabin vaccines is a mutation located in the virus's internal ribosome entry site (IRES) which alters stem-loop structures, and reduces the ability of poliovirus to translate its RNA template within the host cell.
RibH2_W22A contains a single amino acid mutation located in the active site of the endogenous RibH2.
The p.R311Q mutation located in the LBD did not alter dimerization, when compared to the wild-type NR2E3 protein.
From the mutation screening the mostly likely functional variant identified was the -151C/T mutation located in the GHSR promoter.
Patients homozygous for the Arg200Trp (R200W) VHL mutation, located in the extreme C-terminal domain of the 213 amino acid VHL protein (pVHL), develop Chuvash Polycythemia [6], [7].
Thus mutation located in or close to the binding site III is likely to weaken the interaction with IGD, which would further impair the receptor activation.
This mutation located in the HA2 coiled-coil domain was shown to decrease the pH of the activation of the H5 HA protein.
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CEO of Professional Science Editing for Scientists @ prosciediting.com