rs45517412
This is a protein-altering variant in the PKD1 gene.
▶ClinVar annotation
Tuberous sclerosis 2 (TSC2); Tuberous sclerosis syndrome (TSC)
View on ClinVar →▶Research that mentions this SNP (1)
▶Analysis of 65 tuberous sclerosis complex (TSC) patients byTSC2DGGE,TSC1/TSC2MLPA, andTSC1long-range PCR sequencing, and report of 28 novel mutationsCase reportN=65Nanna D. Rendtorff et al.(2005)· Human Mutation
Analysis of 65 Danish tuberous sclerosis complex (TSC) patients identified pathogenic mutations in 51 patients (78%), including 36 small TSC2 mutations, 4 large TSC2 deletions, and 11 small TSC1 mutations, with 28 novel variants reported. Functional assays confirmed that missense mutations impair tuberin protein function and suppress S6K1 phosphorylation.
About PKD1
This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]
View all PKD1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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