| Variant ID | 34692 |
|---|---|
| Entrez Gene ID | 2200 |
| Gene | FBN1 (GeneCards) |
| Location | hg19 15:48712991-48712991
hg38 15:48420794-48420794 |
| Disease | Marfan syndrome (view all the variants in this disease) |
| Method | Sanger Sequencing |
| Mutation(HGVS format) | NC_000015.9:g.48712991 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 63 |
| Position in protein | 2571 |
| Amino acid changes in protein | C > Y |
| Position in cDNA | 7712 |
| Changes in cDNA | G > A |
| mRNA accession | NM_000138.4 |
| mRNA length | NA |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.071 |
| CADD Raw score (version 1.3) | 7.077878 (Deleterious) |
| FATHMM raw prediction score | 0.99166 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.715 (Deleterious) |
| PROVEAN score | -8.78 (Deleterious) |
| MetaSVM score | 0.996 (Deleterious) |
| MetaLR score | 0.991 (Deleterious) |
| MCAP score | 0.976 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.99 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.905 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.073 |
| Deleterious probability by iFish2 | 0.9998 (Deleterious) |
| Deleterious probability by DeFine | 0.9647 (Deleterious) |
| Entrez Gene ID | 2200 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FBN1 (GeneCards) |
| Number of variants in FBN1 in this database | 7 (view all the variants) |
| Full name | fibrillin 1 |
| Band | 15q21.1 |
| Other IDs | Vega: OTTHUMG00000172218 OMIM: 134797 HGNC: HGNC:3603 Ensembl: ENSG00000166147 |
| Other names | FBN, SGS, WMS, MASS, MFLS, MFS1, OCTD, SSKS, WMS2, ACMICD, ECTOL1, GPHYSD2 |
| Summary | This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016] |
| Individual ID | 28588436.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28588436 |
| Whose mosaic mutation | Father |
| Phenotype | 1 |
| Disease | Marfan syndrome (view all the variants in this disease) |
| OMIM ID | 154700 |
| Pubmed ID | 28588436 |
|---|---|
| Title | Novel Marfan Syndrome-Associated Mutation in the FBN1 Gene Caused by Parental Mosaicism and Leading to Abnormal Limb Patterning |
| Journal | Molecular Syndromology |
| Publication date | 2017.03 |
| Disease | Marfan syndrome |
| Number of cases | Male cases: 1; |