Mutations Position Table
APOE R137 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R137H (R119H)
|
Hyperlipoproteinemia Type IIa | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but predicted damaging in silico (PHRED-scaled CADD = 22). |
Abou Khalil et al., 2022 |
| R137C (R119C)
|
Hyperlipoproteinemia Type IIa | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but predicted damaging in silico (PHRED-scaled CADD = 26). |
Abou Khalil et al., 2022 |
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