Mutations
SORL1 R2164Gfs
Overview
Clinical
Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121627678 G>-
Position: (GRCh37/hg19):Chr11:121498387 G>-
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA
Change: Deletion
Reference
Isoform: SORL1 Isoform 1 (2214 aa)
Genomic
Region: Exon 47
Findings
This variant was identified in a family- and cohort-based study of Caribbean Hispanics (Vardarajan et al., 2015). Joint linkage and association analysis, an analytical method that allows researchers to analyze together data from families and unrelated subjects, showed that this variant associated with Alzheimer’s disease.
Functional Consequences
This single-nucleotide deletion results in a frameshift leading to a premature stop codon.
Last Updated: 18 Jul 2024
References
Paper Citations
- Vardarajan BN, Zhang Y, Lee JH, Cheng R, Bohm C, Ghani M, Reitz C, Reyes-Dumeyer D, Shen Y, Rogaeva E, St George-Hyslop P, Mayeux R. Coding mutations in SORL1 and Alzheimer disease. Ann Neurol. 2015 Feb;77(2):215-27. PubMed.
Further Reading
No Available Further Reading
Protein Diagram
Primary Papers
- Vardarajan BN, Zhang Y, Lee JH, Cheng R, Bohm C, Ghani M, Reitz C, Reyes-Dumeyer D, Shen Y, Rogaeva E, St George-Hyslop P, Mayeux R. Coding mutations in SORL1 and Alzheimer disease. Ann Neurol. 2015 Feb;77(2):215-27. PubMed.
Other mutations at this position
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