Mutations Position Table
APOE R152 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R152Q (R134Q)
|
Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but predicted deleterious in silico (PHRED-scaled CADD = 23). |
de Knijff et al., 1994 | |
| R152W (R134W)
|
Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but PHRED-scaled CADD score predicted deleterious (23.3). |
Pires et al., 2017 |
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