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Chunk #21 — Results — Rare amino-acid substitutions

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708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits.
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detected in single SCZ individuals and have also previously been reported in individuals with SCZ; but 160L has also been detected in control individuals.10 The variant 233K has not been previously reported, and was identified in an individual with rMDD. No non-synonymous variants in TRAX were found in cases only. A single stop mutation was identified in a control individual and produces an alternative stop site for the DISC1 Es isoform. These variants can now be tested for potential impact on DISC1 biophysical properties, protein interaction and biological function.29, 30, 31