Mutations
APOE D248Y
Mature Protein Numbering: D230Y
Other Names: ApoE Hong Kong
Quick Links
Overview
Clinical
Phenotype: Kidney Disorder: Lipoprotein Glomerulopathy
Position: (GRCh38/hg38):Chr19:44909038 G>T
Position: (GRCh37/hg19):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.
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