Mutations Position Table

APOE R50 Mutations

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Mutation Clinical
Phenotype Studied
DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Biological Effect Primary
Papers
R50H (R32H)
Cardiovascular Disease, Kidney Disorder: Lipoprotein Glomerulopathy Substitution Substitution | Missense Coding Exon 3

Unknown, but predicted deleterious in silico (PHRED-scaled CADD = 23).

Li et al., 2022
R50C (R32C)
Substitution Substitution | Missense Coding Exon 3

Unknown, but PHRED-scaled CADD score predicted deleterious (25.3).

Pires et al., 2017

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