Mutations Position Table

SORL1 Q1628 Mutations

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Mutation DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
Q1628R
Substitution Substitution | Missense Coding Exon 35

Unknown.

Unknown.

Holstege et al., 2022
Q1628Ter
Substitution Substitution | Nonsense Coding Exon 35

Unknown.

Introduces a premature stop codon.

Holstege et al., 2022

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