Mutations Position Table
APOE R160 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| V153_R160dup (V135_R142dup) (ApoE5ss) |
Blood Lipids/Lipoproteins, Hyperlipoproteinemia Type IV | Duplication | Duplication | Duplication | Coding | Exon 4 | Unknown, but alters the receptor binding and main heparin binding regions. |
Yamanouchi et al., 2001 |
| R160L (R142L) |
Cardiovascular Disease, Hyperlipoproteinemia Type III | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but predicted deleterious in silico (PHRED-scaled CADD = 28). |
Richard et al., 1995; Richard et al., 1994 |
| R160C (R142C) (ApoE1 Nagoya) |
Blood Lipids/Lipoproteins, Hyperlipoproteinemia Type III | Substitution | Substitution | Missense | Coding | Exon 4 | Reduced receptor binding and especially heparin binding. Increased prevalence in VLDLs. Multiple effects on lipid and lipoprotein profiles in mice. |
Rall et al., 1989; Havel et al., 1983 |
| R160S (R142S) |
Hyperlipoproteinemia Type IIa, Hyperlipoproteinemia Type III | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but predicted deleterious in silico (PHRED-scaled CADD = 26). |
Sakuma et al., 1995; Sakuma et al., 2014 |
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