Mutations
SORL1 Q554E
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Overview
Clinical
Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37/hg19
Position: Chr11:121403236 C>G
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA
Change: Substitution
Expected Protein
Consequence: Missense
Codon
Change: CAG to GAG
Reference
Isoform: SORL1 Isoform 1 (2214 aa)
Genomic
Region: Exon 12
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 five times—once among the AD cases and four times among the controls (Henne Holstege, personal communication).
Last Updated: 18 Jul 2023
References
No Available References
Further Reading
No Available Further Reading
Protein Diagram
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