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Exact(6)
Conserved residues refer to the different individuals sharing the same amino acid in a sequence when aligned, while identical and similar residues refer to the different individuals having a different amino acid in a sequence when aligned yet the amino acid mutation is within the same amino acid class.
Since the mutation is within the endogenous Sod1 gene, mutant SOD1 is not overexpressed.
Because the C13A mutation is within the SP, it is not surprising that it has an intermediate expression defect, and, consequently, an intermediate nuclear fusion defect.
Both missense and silent variants can affect splicing if the mutation is within an exon splicing enhancer or exon splicing silencer.
The premature termination codon of the c.1684C>T nonsense mutation is within the AAA ATPase domain, and therefore transcripts of this allele are expected to induce nonsense-mediated mRNA decay.
The R650C mutation in the LPK Nek8 protein is located in blade 7. The R650C mutation is within the core G[QRC]LG motif that was also noted within the hamster RCC1 protein.
Similar(54)
The reductions in the rates of strand cleavage and hydrolysis due to this mutation are within a factor of two (see Table 1).
This strongly suggested that the causal mutation arose within the ES cells prior to independent line generation and thus that the causal mutation was within the 129Ola genome.
The probability that a mutation will cause disease tends to be higher when the missense mutation was within a functionally important region.
All mutations are within an RMSD value of 1.2 Å (Figure 1D), indicating that the mutations can be accommodated by simple flexible deformation of the protein.
Three disease-causing mutations are within this portion.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com