rs104893807
This is a variant in the TGFBR2 gene that changes a serine to an phenylalanine.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disordersCase reportN=457Chantal Stheneur et al.(2008)· Human Mutation
This study screened 457 patients with suspected Marfan Syndrome (MFS), Loeys-Dietz Syndrome (LDS), and related connective tissue disorders for TGFBR2 and TGFBR1 mutations. The authors identified 23 TGFBR2 mutations (19 novel) and 6 TGFBR1 mutations with diverse clinical presentations ranging from classical MFS to isolated aortic aneurysm. Mutation detection rates were very low except in LDS patients (87.5%), suggesting these genes are responsible for a subset of disease cases with specific phenotypic features.
About TGFBR2
The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017]
View all TGFBR2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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