Mutations Position Table

APOE W228 Mutations


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Mutation Clinical
Phenotype Studied
DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Biological Effect Primary
W228Ter (W210Ter)
(ApoE3 Washington)
Alzheimer's Disease, Blood Lipids/Lipoproteins, Hyperlipoproteinemia Type III Substitution Substitution | Nonsense Coding Exon 4

Generated a truncated protein and, in homozygous form, nearly eliminated ApoE from plasma. In cells, decreased ApoE production and secretion by ~2/3. Lipoprotein and lipid profiles in blood indicated a reduction in hepatic removal of remnant lipoprotein particles.

Lohse et al., 1992
A227_E230del (A209_E212del)
Blood Lipids/Lipoproteins, Cardiovascular Disease, Hyperlipoproteinemia Type III Deletion Deletion | Frame Shift Coding Exon 4

Predicted to cause a frameshift introducing a stop codon at amino acid 247. In homozygous form, resulted in near elimination of ApoE protein.

Feussner et al., 1996

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