| Variant ID | 347 |
|---|---|
| Entrez Gene ID | 7048 |
| Gene | TGFBR2 (GeneCards) |
| Location | hg19 3:30715678-30715678
hg38 3:30674186-30674186 |
| Disease | Loeys Dietz syndrome (view all the variants in this disease) |
| Method | ABI3100 |
| Mutation(HGVS format) | NC_000003.11:g.30715678 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 5 |
| Position in protein | 446 |
| Amino acid changes in protein | D > N |
| Position in cDNA | 1336 |
| Changes in cDNA | G > A |
| mRNA accession | NM_003242.5 |
| mRNA length | 1704 |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.1991 |
| CADD Raw score (version 1.3) | 7.484829 (Deleterious) |
| FATHMM raw prediction score | 0.97693 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.25 (Deleterious) |
| PROVEAN score | -8.96 (Deleterious) |
| MetaSVM score | 0.962 (Deleterious) |
| MetaLR score | 0.992 (Deleterious) |
| MCAP score | 0.702 (Deleterious) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.02 |
| PhyloP score based on multiple alignment of 100 vertebrates | 10.003 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.547 |
| Deleterious probability by DeFine | 0.9552 (Deleterious) |
| Entrez Gene ID | 7048 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TGFBR2 (GeneCards) |
| Number of variants in TGFBR2 in this database | 7 (view all the variants) |
| Full name | transforming growth factor beta receptor 2 |
| Band | 3p24.1 |
| Other IDs | Vega: OTTHUMG00000130569 OMIM: 190182 HGNC: HGNC:11773 Ensembl: ENSG00000163513 |
| Other names | AAT3, FAA3, LDS2, MFS2, RIIC, LDS1B, LDS2B, TAAD2, TBRII, TBR-ii, TGFR-2, TGFbeta-RII |
| Summary | 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] |
| Individual ID | 19006214.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 19006214 |
| Whose mosaic mutation | Father |
| Phenotype | 1 |
| Number of affected children | 1 ( male: 1; ) |
| Disease | Loeys Dietz syndrome (view all the variants in this disease) |
| OMIM ID | 610168 |
| Pubmed ID | 19006214 |
|---|---|
| Title | Paternal Somatic Mosaicism of a TGFBR2 Mutation Transmitting to an Affected Son With Loeys Dietz Syndrome |
| Journal | American Journal of Medical Genetics |
| Publication date | 2008.12 |
| Disease | Loeys Dietz syndrome |
| Number of cases | Male cases: 1; |