Mutations

SORL1 A551A

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121532520 T>C
Position: (GRCh37/hg19):Chr11:121403229 T>C
dbSNP ID: rs636588
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected Protein Consequence: Silent
Codon Change: GCT to GCC
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Exon 12

Findings

Eleven homozygous carriers of this synonymous variant were found in a cohort of 117 Saudi Arabian Alzheimer’s cases (El Bitar et al., 2019). This study did not include non-AD controls.

Functional Consequences

The variant was predicted to be tolerated by SIFT and neutral by PROVEAN, and was classified as a polymorphism by Mutation Taster (El Bitar et al., 2019).

Last Updated: 18 Jul 2024

Comments

No Available Comments

Make a Comment

To make a comment you must login or register.

References

Paper Citations

  1. 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

  1. 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.

Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.