Mutations
SORL1 V297M
Overview
Clinical
Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121496999 G>A
Position: (GRCh37/hg19):Chr11:121367708 G>A
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA
Change: Substitution
Expected Protein
Consequence: Missense
Codon
Change: GTG to ATG
Reference
Isoform: SORL1 Isoform 1 (2214 aa)
Genomic
Region: Exon 6
Findings
A Saudi Arabian patient with early onset Alzheimer’s disease and a family history of AD was found to be a heterozygous carrier of this variant (El Bitar et al., 2019). The carrier’s APOE genotype was E3/E4.
Functional Consequences
The variant was predicted to be disease-causing by Mutation Taster, probably damaging by PolyPhen-2, damaging by SIFT, 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.
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