Mutations
SORL1 N486S
Quick Links
Overview
Clinical
Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121522638 A>G
Position: (GRCh37/hg19):Chr11:121393347 A>G
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA
Change: Substitution
Expected Protein
Consequence: Missense
Codon
Change: AAC to AGC
Reference
Isoform: SORL1 Isoform 1 (2214 aa)
Genomic
Region: Exon 10
Findings
In a study that included 18,959 Alzheimer’s cases and 21,893 control subjects from multiple European and American cohorts, this allele was observed twice—once among the AD cases and once among the controls (Henne Holstege, personal communication).
Last Updated: 18 Jul 2024
References
No Available References
Further Reading
No Available Further Reading
Protein Diagram
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.