Mutations
SORL1 R1041S
Overview
Clinical
Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121567013 G>C
Position: (GRCh37/hg19):Chr11:121437722 G>C
dbSNP ID: rs1165471216
Coding/Non-Coding: Coding
DNA
Change: Substitution
Expected Protein
Consequence: Missense
Codon
Change: AGG to AGC
Reference
Isoform: SORL1 Isoform 1 (2214 aa)
Genomic
Region: Exon 22
Findings
The R1041S variant was identified in Caribbean Hispanics in a family- and cohort-based study (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
The variant was predicted to be benign by PolyPhen-2 (Vardarajan et al., 2015).
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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