Mutations Position Table
APOE R50 Mutations
| 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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