Mutations Position Table
APOE p102 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| P102L (P84L)
|
Hyperlipoproteinemia Type IIa | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but predicted damaging in silico (PHRED-scaled CADD = 23). |
Abou Khalil et al., 2022 |
| P102R (P84R)
(ApoE5) |
Blood Lipids/Lipoproteins, Cardiovascular Disease | Substitution | Substitution | Missense | Coding | Exon 4 | No effect on receptor binding detected, but predicted deleterious by wide variety of in silico algorithms. |
Wardell et al., 1991 |
| P102T (P84T)
|
Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but PHRED-scaled CADD score predicted deleterious (22.5). |
Pires et al., 2017 |
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