Mutations Position Table
APOE L173 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| L173P (L155P)
(ApoE Chengdu) |
Kidney Disorder: Lipoprotein Glomerulopathy, Blood Lipids/Lipoproteins | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but predicted deleterious in silico (PHRED-scaled CADD = 25). |
Wu et al., 2018 |
| L173L (L155L)
|
Hyperlipoproteinemia Type IIb | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but predicted benign in silico (PHRED-scaled CADD = 8). |
Abou Khalil et al., 2022 |
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