Mutations
APOE D248Y
Mature Protein Numbering: D230Y
Other Names: ApoE Hong Kong
Quick Links
Overview
Clinical
Phenotype: Kidney Disorder: Lipoprotein Glomerulopathy
Reference Assembly: GRCh37/hg19
Position: Chr19:45412295 G>T
Transcript: NM_000041; ENSG00000130203
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA
Change: Substitution
Expected RNA
Consequence: Substitution
Expected Protein
Consequence: Missense
Codon
Change: GAC to TAC
Reference
Isoform: APOE Isoform 1
Genomic
Region: Exon 4
Findings
Last Updated: 05 Dec 2022
References
No Available References
Further Reading
No Available Further Reading
Protein Diagram
Primary Papers
- Cheung CY, Chan AO, Chan YH, Lee KC, Chan GP, Lau GT, Shek CC, Chau KF, Li CS. A rare cause of nephrotic syndrome: lipoprotein glomerulopathy. Hong Kong Med J. 2009 Feb;15(1):57-60. 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.
Comments
No Available Comments
Make a Comment
To make a comment you must login or register.