Mutations Position Table

SORL1 E642 Mutations

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Mutation DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
E642A
Substitution Substitution | Missense Coding Exon 14

Unknown.

Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.

Campion et al., 2019
E642K
Substitution Substitution | Missense Coding Exon 14

Unknown.

Unknown; predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and probably damaging by PolyPhen-2.

Verheijen et al., 2016

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