| Variant ID | 978 |
|---|---|
| Entrez Gene ID | 7273 |
| Gene | TTN (GeneCards) |
| Location | hg19 2:179561875-179561875
hg38 2:178697148-178697148 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.179561875 G>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 10259 |
| Amino acid changes in protein | P > T |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.228 |
| CADD Raw score (version 1.3) | 2.613462 (Deleterious) |
| FATHMM raw prediction score | 0.92202 (Tolerated) |
| SIFT score | 0.113 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| PROVEAN score | -3.88 (Deleterious) |
| MetaSVM score | -0.637 (Tolerated) |
| MetaLR score | 0.232 (Tolerated) |
| MCAP score | 0.024 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.53 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.439 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.999 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.307 |
| Deleterious probability by iFish2 | 0.0945 (Neutral) |
| Deleterious probability by DeFine | 0.9665 (Deleterious) |
| Entrez Gene ID | 7273 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TTN (GeneCards) |
| Number of variants in TTN in this database | 4 (view all the variants) |
| Full name | titin |
| Band | 2q31.2 |
| Other IDs | Vega: OTTHUMG00000154448 OMIM: 188840 HGNC: HGNC:12403 Ensembl: ENSG00000155657 |
| Other names | TMD, CMH9, CMD1G, CMPD4, EOMFC, HMERF, MYLK5, SALMY, LGMD2J |
| Summary | This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |