Mutations
SORL1 F1765F
Overview
Clinical
Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121611131 C>T
Position: (GRCh37/hg19):Chr11:121481840 C>T
dbSNP ID: rs147735243
Coding/Non-Coding: Coding
DNA
Change: Substitution
Expected Protein
Consequence: Silent
Codon
Change: TTC to TTT
Reference
Isoform: SORL1 Isoform 1 (2214 aa)
Genomic
Region: Exon 39
Findings
This synonymous variant was reported in a study of 117 Saudi Arabian Alzheimer’s cases, where one subject was found to be a heterozygous carrier (El Bitar et al., 2019). At that time, the variant was found in the ExAc and 1000 Genomes datasets at minor allele frequencies of 1.48×10-4 and 1.0×10-3, respectively.
Functional Consequences
The variant was predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and neutral by PROVEAN (El Bitar et al., 2019).
Last Updated: 18 Jul 2024
References
Paper Citations
- El Bitar F, Qadi N, Al Rajeh S, Majrashi A, Abdulaziz S, Majrashi N, Al Inizi M, Taher A, Al Tassan N. Genetic Study of Alzheimer's Disease in Saudi Population. J Alzheimers Dis. 2019;67(1):231-242. PubMed.
Further Reading
No Available Further Reading
Protein Diagram
Primary Papers
- El Bitar F, Qadi N, Al Rajeh S, Majrashi A, Abdulaziz S, Majrashi N, Al Inizi M, Taher A, Al Tassan N. Genetic Study of Alzheimer's Disease in Saudi Population. J Alzheimers Dis. 2019;67(1):231-242. PubMed.
Other mutations at this position
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