Mutations Position Table

APOE R176 Mutations

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Mutation Clinical
Phenotype Studied
DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Biological Effect Primary
Papers
R176P (R158P)
(Osaka/Kurashiki, ApoE Osaka/Kurashiki, ApoE2 Kurashiki, ApoE Osaka)
Blood Lipids/Lipoproteins, Cardiovascular Disease, Kidney Disorder: Lipoprotein Glomerulopathy Substitution Substitution | Missense Coding Exon 4

Unknown, but structural analyses predicted changes affecting lipid and receptor binding.

Tokura et al., 2011;
Mitani et al., 2011
[C130R;R176C] ([C112R;R158C])
(ApoE3r, ApoE1y)
Blood Lipids/Lipoproteins, Motor Neuron Disease Coding Exon 4

Unknown.

Persico et al., 2004
[R176C];[C130R] ([R158C;C112R])
(ApoE2/4, ApoE4/2)
Alzheimer's Disease, Multiple Conditions Coding Exon 4

When present in the same host, APOE2 appears to partially mitigate APOE4's harmful effects.

Farrer et al., 1997
R176C (R158C)
(ApoE2)
Alzheimer's Disease, Multiple Conditions Allele Allele | Allele Coding Exon 4

Protective against AD risk. Effects on both Aβ (direct) and tau (possibly indirect) pathologies. Also implicated in multiple neuronal and non-neuronal functions.

Weisgraber et al., 1981;
Zannis and Breslow, 1981

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