Mutations Position Table
APOE T11 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| T11A
|
Hyperlipoproteinemia Type IIb | Substitution | Substitution | Missense | Coding | Exon 2 | Unknown, but predicted benign in silico (PHRED-scaled CADD = 0.3). |
Abou Khalil et al., 2022 |
| T11S
|
Alzheimer's Disease, Blood Lipids/Lipoproteins, Dementia | Substitution | Substitution | Missense | Coding | Exon 2 | Unknown, but predicted benign in silico (PHRED-scaled CADD = 0.6). |
Rasmussen et al., 2020 |
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