Mutations
SORL1 N466D
Overview
Clinical
Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121520841 A>G
Position: (GRCh37/hg19):Chr11:121391550 A>G
dbSNP ID: rs755894739
Coding/Non-Coding: Coding
DNA
Change: Substitution
Expected Protein
Consequence: Missense
Codon
Change: AAT to GAT
Reference
Isoform: SORL1 Isoform 1 (2214 aa)
Genomic
Region: Exon 9
Findings
The variant was found in one of 5198 Alzheimer's cases and none 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 N466D variant was predicted to be tolerated by SIFT, neutral by Mutation Taster, and benign by 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.
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