| Variant ID | 988 |
|---|---|
| Entrez Gene ID | 8927 |
| Gene | BSN (GeneCards) |
| Location | hg19 3:49680263-49680263
hg38 3:49642830-49642830 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.49680263 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 399 |
| Amino acid changes in protein | P > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4476 |
| CADD Raw score (version 1.3) | 1.014228 (Deleterious) |
| FATHMM raw prediction score | 0.83917 (Tolerated) |
| SIFT score | 0.053 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.999 (Deleterious) |
| MutatioinAssessor score | 0.695 (Tolerated) |
| PROVEAN score | -3.08 (Deleterious) |
| MetaSVM score | -1.099 (Tolerated) |
| MetaLR score | 0.046 (Tolerated) |
| MCAP score | 0.01 (Tolerated) |
| FitCons score | 0.516 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.35 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.891 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.976 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.454 |
| Deleterious probability by iFish2 | 0.2178 (Neutral) |
| Deleterious probability by DeFine | 0.9395 (Deleterious) |
| Entrez Gene ID | 8927 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BSN (GeneCards) |
| Number of variants in BSN in this database | 1 (view all the variants) |
| Full name | bassoon presynaptic cytomatrix protein |
| Band | 3p21.31 |
| Other IDs | Vega: OTTHUMG00000133750 OMIM: 604020 HGNC: HGNC:1117 Ensembl: ENSG00000164061 |
| Other names | ZNF231 |
| Summary | Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008] |
| 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; |