Mutations
SORL1 R287Q
Quick Links
Overview
Clinical
Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37/hg19
Position: Chr11:121367679 G>A
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA
Change: Substitution
Expected Protein
Consequence: Missense
Codon
Change: CGG to CAG
Reference
Isoform: SORL1 Isoform 1 (2214 aa)
Genomic
Region: Exon 6
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 once among the controls (Henne Holstege, personal communication).
Last Updated: 18 Jul 2023
References
No Available References
Further Reading
No Available Further Reading
Protein Diagram
Other mutations at this position
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