Mutations

SORL1 K1634M

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121605524 A>T
Position: (GRCh37/hg19):Chr11:121476233 A>T
dbSNP ID: rs566154971
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected Protein Consequence: Missense
Codon Change: AAG to ATG
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Exon 35

Findings

This variant was identified in a 48-year-old woman diagnosed with probable cerebral amyloid angiopathy-related inflammation (CAA-ri), based on clinical symptoms (headache, vomiting, and nausea) and MRI findings (white matter hyperintensities and cerebral microbleeds). She is homozygous for the ε4 allele of APOE.

Last Updated: 18 Jul 2024

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References

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Further Reading

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Protein Diagram

Primary Papers

  1. Du Y, Liu C, Ma C, Xu X, Zhou X, Zhou H, Huang C. Cerebral amyloid angiopathy-related inflammation: a case report presenting with a rare variant in SORL1 gene. BMC Neurol. 2019 May 15;19(1):97. PubMed.

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