Mutations

APOE R207C

Mature Protein Numbering: R189C

Overview

Clinical Phenotype: Cardiovascular Disease
Position: (GRCh38/hg38):Chr19:44908915 C>T
Position: (GRCh37/hg19):Chr19:45412172 C>T
Transcript: NM_000041; ENSG00000130203
dbSNP ID: rs749750245
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: CCG to CTG
Reference Isoform: APOE Isoform 1
Genomic Region: Exon 4

Findings

A study of cardiovascular disease risk involving analyses of whole-genome and whole-exome sequencing data from 138,632 individuals, identified R163C as one of six APOE variants likely to have functional consequences and clinical relevance given their high prevalence in at least one population and their classification by five algorithms (SIFT, Polyphen2, MutationAssessor, PROVEAN, and DANN) as deleterious with high confidence (Zhou et al., 2018). Consistently, R207C’s PHRED-scaled CADD score, which integrates diverse information in silico, was 24.6, suggesting a deleterious effect (CADD v.1.6, May 2022).

Thirty heterozygotes were reported in the gnomAD variant database, all of whom were of Latino/Admixed American ancestry except one (v2.1.1, May 2022). Consistently, Zhou and colleagues reported a frequency of 0.002 in Latinos (Zhou et al., 2018).

Last Updated: 05 Dec 2022

Comments

No Available Comments

Make a Comment

To make a comment you must login or register.

References

Paper Citations

  1. . Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk. J Lipid Res. 2018 Oct;59(10):1987-2000. Epub 2018 Aug 3 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk. J Lipid Res. 2018 Oct;59(10):1987-2000. Epub 2018 Aug 3 PubMed.

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.