Mutations Position Table

APOE R163 Mutations

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Mutation Clinical
Phenotype Studied
DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Biological Effect Primary
Papers
R163H (R145H)
(ApoE Kochi)
Blood Lipids/Lipoproteins Substitution Substitution | Missense Coding Exon 4

Unknown, but predicted deleterious in silico (PHRED-scaled CADD = 23).

Suehiro et al., 1990
R163P (R145P)
(Sendai)
Kidney Disorder: Lipoprotein Glomerulopathy Substitution Substitution | Missense Coding Exon 4

Reduced receptor and heparin binding in vitro. In mice, caused LPG-like renal aggregates, altered lipid/lipoprotein profile in blood, and altered macrophage function.

Oikawa et al., 1991;
Oikawa et al., 1997
R163C (R145C)
(ApoE4 Philadelphia, ApoE Qatar, APOE ε3[R145C])
Alzheimer's Disease, Multiple Conditions Substitution Substitution | Missense Coding Exon 4

Reduced heparin binding and moderately reduced receptor binding.

Rall et al., 1982
L162_K164del (L144_K146del)
(Tokyo/Maebashi, ApoE Tokyo, ApoE Maebashi, L141_K143del, R142_L144del, K143_R145del)
Blood Lipids/Lipoproteins, Kidney Disorder: Lipoprotein Glomerulopathy Deletion Deletion | Deletion Coding Exon 4

Unknown, but expected to alter receptor binding and heparin binding.

Konishi et al., 1999;
Ogawa et al., 2000;
Maruyama et al., 1997
K161_R165del (K143_R147del)
Blood Lipids/Lipoproteins, Kidney Disorder: Lipoprotein Glomerulopathy Deletion Deletion | Deletion Coding Exon 4

Unknown, but expected to alter receptor binding and heparin binding.

Xie et al., 2019

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