|DNA Change||Protein Change||Biological Effect||Genomic Position||Coding/Non-Coding||Genomic Region||Primary
|Blood Lipids/Lipoproteins, Hyperlipoproteinemia Type III||Substitution||
Generated a truncated protein and, in homozygous form, nearly eliminated ApoE from plasma. Lipoprotein and lipid profiles in blood indicated a reduction in hepatic removal of remnant lipoprotein particles.
|Coding||Exon 4||Lohse et al., 1992|
||Blood Lipids/Lipoproteins, Cardiovascular Disease, Hyperlipoproteinemia Type III||Deletion||
Predicted to cause a frameshift introducing a stop codon at amino acid 247. In homozygous form, resulted in near elimination of ApoE protein.
|Coding||Exon 4||Feussner et al., 1996|
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