Mutations Position Table
APOE W228 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| 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 |
Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.