Therefore, it has been classified as a Variant of Uncertain Significance. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PIGN-related conditions. NM000152.5(GAA):c.1593C>T (p. This variant is present in population databases (rs768522173, ExAC 0.005%). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. 6, 12, 24, 125 & 250 Voltage ranges in various amp configurations. This sequence change replaces aspartic acid with glutamic acid at codon 531 of the PIGN protein (p.Asp531Glu). A variety of Single Pull, Single Throw, Double Throw, Double Pull, Rocker Switches, Indicator Lights, Momentary, Push Pull & Battery Disconnects.
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