Mutations
SORL1 R224T
Overview
Clinical
Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121488174 G>C
Position: (GRCh37/hg19):Chr11:121358883 G>C
dbSNP ID: rs148380810
Coding/Non-Coding: Coding
DNA
Change: Substitution
Expected Protein
Consequence: Missense
Codon
Change: AGG to ACG
Reference
Isoform: SORL1 Isoform 1 (2214 aa)
Genomic
Region: Exon 4
Findings
The variant was found in none of 5198 Alzheimer's cases and one of 4491 controls in a dataset from the Alzheimer’s Disease Sequencing Project, consisting of subjects of non-Hispanic Caucasian ancestry from whom whole-exome sequencing data were available (Campion et al., 2019).
Functional Consequences
The R224T variant was predicted to be deleterious by SIFT, but neutral/benign by Mutation Taster and PolyPhen-2 (Campion et al., 2019).
Last Updated: 18 Jul 2024
References
Paper Citations
- Campion D, Charbonnier C, Nicolas G. SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data. Acta Neuropathol. 2019 Aug;138(2):173-186. Epub 2019 Mar 25 PubMed.
Further Reading
No Available Further Reading
Protein Diagram
Primary Papers
- Campion D, Charbonnier C, Nicolas G. SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data. Acta Neuropathol. 2019 Aug;138(2):173-186. Epub 2019 Mar 25 PubMed.
Other mutations at this position
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.