Mutations Position Table

SORL1 R369 Mutations

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Mutation DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
R369H
Substitution Substitution | Missense Coding Exon 8

Unknown.

Unknown.

Holstege et al., 2022
R369C
Substitution Substitution | Missense Coding Exon 8

Unknown.

Unknown.

Holstege et al., 2022

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