Mutations Position Table
APOE E262 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| E262K (E244K)
|
Blood Lipids/Lipoproteins, Cardiovascular Disease | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but predicted damaging in silico (PHRED-CADD = 23.3) |
Maeda et al., 1989; Yamamura et al., 1984 |
| E262_E263delinsKK (E244_E245delinsKK)
(Suita, ApoE7 Suita) |
Multiple Conditions | Deletion-Insertion | Deletion-Insertion | Deletion-Insertion | Coding | Exon 4 | Unclear, but predicted damaging by multiple in silico algorithms. |
Maeda et al., 1989; Yamamura et al., 1984 |
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