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For example, we identified 5 mutations that showed normal immediate memory, but abnormal short-term memory, the memory profile we obtained in our primary screen for mice with hippocampal lesions.
By partially resequencing genes, we identified four candidates containing six mutations that showed a strong association with the target phenotype.
To be conservative in our method of identifying CI, we only considered mutations that showed molecular evolutionary evidence of being adaptive (criteria described in Table 3 and Discussion).
This explanation could also apply to those mutations that showed reduced growth at 25° while appearing normal at 18°, as development proceeds roughly two times faster at 25° than at 18°.
Genes with non-synonymous point mutations that showed significant POLYPHEN (>0.5) or SIFT scores (>0.1) were compared to the 'Breast Invasive Carcinoma, TCGA 2012' and 'TCGA provisional' databases to determine the frequencies in patient cohorts.
For this analysis, we pooled data from both ancestors since only one population was examined for anc in the harsh condition, and we excluded mutations that showed no evidence of being adaptive.
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For LRRK2, there are a number of mutations that show clear evidence of segregation.
Familial conditions are usually caused by autosomal dominant mutations that show a variable degree of expressivity.
But, these tools consistently fail in correctly annotating laboratory-induced mutations that show no functional impact in the laboratory assays.
However, we find that the majority of pedigrees in which patients exhibit reproducibly short disease durations are associated with mutations that show a high inherent propensity to induce aggregation of SOD1.
In addition, eight mutations that show very fast kpep values and thus suppress the effect of the hyperstable Tyr-T1 tRNATyr are all proteins that substantially weaken binding to aa-tRNA (ΔΔ Go > 0.6 kcal/mol).
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com