Mutations Position Table
APOE W228 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Protein Change | Biological Effect | Genomic Position | Coding/Non-Coding | Genomic Region | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| W228Ter (W210Ter) (ApoE3 Washington) |
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. |
rs121918396 |
Coding | Exon 4 | Lohse et al., 1992 | |
| A227_E230del (A209_E212del) |
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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