| Variant ID | 840 |
|---|---|
| Entrez Gene ID | 8720 |
| Gene | MBTPS1 (GeneCards) |
| Location | hg19 16:84132829-84132829
hg38 16:84099224-84099224 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000016.9:g.84132829 T>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 84 |
| Amino acid changes in protein | N > Y |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3828 |
| CADD Raw score (version 1.3) | 3.97645 (Deleterious) |
| FATHMM raw prediction score | 0.94196 (Tolerated) |
| SIFT score | 0.01 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.22 (Deleterious) |
| PROVEAN score | -3.89 (Deleterious) |
| MetaSVM score | -1.072 (Tolerated) |
| MetaLR score | 0.078 (Tolerated) |
| MCAP score | 0.019 (Tolerated) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.82 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.183 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.505 |
| Deleterious probability by iFish2 | 0.5891 (Deleterious) |
| Deleterious probability by DeFine | 0.9219 (Deleterious) |
| Entrez Gene ID | 8720 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MBTPS1 (GeneCards) |
| Number of variants in MBTPS1 in this database | 1 (view all the variants) |
| Full name | membrane bound transcription factor peptidase, site 1 |
| Band | 16q23.3-q24.1 |
| Other IDs | Vega: OTTHUMG00000137639 OMIM: 603355 HGNC: HGNC:15456 Ensembl: ENSG00000140943 |
| Other names | S1P, PCSK8, SKI-1 |
| Summary | This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014] |
| Individual ID | 27788131.01 (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; |