Mutations Position Table
APOE R132 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R132P (R114P) |
Cardiovascular Disease, Diabetes Mellitus | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but predicted deleterious in silico (PHRED-scaled CADD = 25). |
Stephens et al., 2005 |
| R132C (R114C) (Tsukuba) |
Splenomegaly | Substitution | Substitution | Missense | Coding | Exon 4 | Enhanced aggregation, destabilized protein. |
Hagiwara et al., 2008 |
| R132S (R114S) |
Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but predicted deleterious in silico by multiple algorithms. |
Pires et al., 2017 |
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