rs28939068
This is a variant in the CST3 gene that changes a leucine to an glutamine.
▶ClinVar annotation
Hereditary cerebral amyloid angiopathy, Icelandic type
View on ClinVar →▶Research that mentions this SNP (1)
▶Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala→Gly mutationReviewCras P. et al.(1998)· Acta Neuropathologica
This comprehensive review describes the causes and clinical management of early-onset cerebral amyloid angiopathy (CAA), including monogenic forms caused by mutations in APP (six confirmed pathogenic mutations: Dutch Glu693Gln, Flemish Ala692Gly, Italian Glu693Lys, Arctic Glu693Gly, Iowa Asp694Asn, and Piedmont Leu705Val), PSEN1, PSEN2, and non-amyloid-beta forms associated with mutations in ITM2B, CST3, GSN, PRNP, and TTR genes. The review provides a structured clinical approach to investigation and management of early-onset CAA, including iatrogenic forms recently recognized following contaminated cadaveric growth hormone treatment.
About CST3
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014]
View all CST3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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