Mutations Position Table
APOE R168 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R168H (R150H)
|
Alzheimer's Disease, Blood Lipids/Lipoproteins, Diabetes Mellitus | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but predicted deleterious in silico (PHRED-scaled CADD = 23). |
Stephens et al., 2005 |
| R168P (R150P)
(ApoE Guangzhou) |
Blood Lipids/Lipoproteins, Kidney Disorder: Lipoprotein Glomerulopathy | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but predicted deleterious in silico (PHRED-scaled CADD = 23). |
Luo et al., 2008 |
| R168C (R150C)
(ApoE Modena) |
Blood Lipids/Lipoproteins, Kidney Disorder: Lipoprotein Glomerulopathy, Splenomegaly | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but may induce dimer formation and facilitate entrapment in kidney capillaries. Also, may affect receptor binding. |
Russi et al., 2009 |
| R168G (R150G)
(Okayama) |
Blood Lipids/Lipoproteins, Kidney Disorder: Lipoprotein Glomerulopathy | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but predicted deleterious in silico (PHRED-scaled CADD = 23). |
Kinomura et al., 2008 |
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