Mutations Position Table

SORL1 S499 Mutations

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Mutation DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
S499L
Substitution Substitution | Missense Coding Exon 10

Unknown.

Unknown.

Holstege et al., 2022
S499W
Substitution Substitution | Missense Coding Exon 10

Unknown.

Unknown.

Holstege et al., 2022

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