| Variant ID | 1137 |
|---|---|
| Entrez Gene ID | 23031 |
| Gene | MAST3 (GeneCards) |
| Location | hg19 19:18234151-18234151
hg38 19:18123341-18123341 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000019.9:g.18234151 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 146 |
| Amino acid changes in protein | S > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.459 |
| CADD Raw score (version 1.3) | 5.681319 (Deleterious) |
| FATHMM raw prediction score | 0.95217 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.565 (Deleterious) |
| PROVEAN score | -4.3 (Deleterious) |
| MetaSVM score | -0.521 (Tolerated) |
| MetaLR score | 0.214 (Tolerated) |
| MCAP score | 0.118 (Deleterious) |
| FitCons score | 0.632 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.69 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.597 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.99 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.949 |
| Deleterious probability by iFish2 | 0.6122 (Deleterious) |
| Deleterious probability by DeFine | 0.9667 (Deleterious) |
| Entrez Gene ID | 23031 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAST3 (GeneCards) |
| Number of variants in MAST3 in this database | 1 (view all the variants) |
| Full name | microtubule associated serine/threonine kinase 3 |
| Band | 19p13.11 |
| Other IDs | Vega: OTTHUMG00000183418 OMIM: 612258 HGNC: HGNC:19036 Ensembl: ENSG00000099308 |
| Other names | None |
| Summary | None |
| 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; |