Mutations Position Table
APOE R269 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R269H (R251G)
|
Hyperlipoproteinemia Type IIa | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but predicted damaging in silico (PHRED-scaled CADD = 25). |
Diboun et al., 2022 |
| R269G (R251G)
(ApoE ε4 (R251G)) |
Alzheimer's Disease, Multiple Conditions | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but predicted damaging in silico (PHRED-scaled CADD = 23). |
van den Maagdenberg et al., 1993 |
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