Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.

Hum Genet · 2023 · PMC10449689 · PMID 37199746

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highly significantno p-value reported

This rigid conservation is highly significant because mutating a paralog-conserved residue risks being more deleterious than changing a site that is not paralog-conserved (Lal et al. 2020 ; Patthy 2008 ).

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