Mutations
SORL1 S114N
Quick Links
Overview
Clinical
Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121470062 G>A
Position: (GRCh37/hg19):Chr11:121340771 G>A
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA
Change: Substitution
Expected Protein
Consequence: Missense
Codon
Change: AGC to AAC
Reference
Isoform: SORL1 Isoform 1 (2214 aa)
Genomic
Region: Exon 2
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 AD cases (Henne Holstege, personal communication).
Last Updated: 18 Jul 2024
References
No Available References
Further Reading
No Available Further Reading
Protein Diagram
Other mutations at this position
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