| Variant ID | 1036 |
|---|---|
| Entrez Gene ID | 247 |
| Gene | ALOX15B (GeneCards) |
| Location | hg19 17:7950284-7950284
hg38 17:8046966-8046966 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000017.10:g.7950284 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 449 |
| Amino acid changes in protein | L > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7688 |
| CADD Raw score (version 1.3) | 0.964788 (Deleterious) |
| FATHMM raw prediction score | 0.96941 (Tolerated) |
| Deleterious probability by DeFine | 0.6742 (Deleterious) |
| Entrez Gene ID | 247 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ALOX15B (GeneCards) |
| Number of variants in ALOX15B in this database | 2 (view all the variants) |
| Full name | arachidonate 15-lipoxygenase, type B |
| Band | 17p13.1 |
| Other IDs | Vega: OTTHUMG00000108181 OMIM: 603697 HGNC: HGNC:434 Ensembl: ENSG00000179593 |
| Other names | 15-LOX-2 |
| Summary | This gene encodes a member of the lipoxygenase family of structurally related nonheme iron dioxygenases involved in the production of fatty acid hydroperoxides. The encoded protein converts arachidonic acid exclusively to 15S-hydroperoxyeicosatetraenoic acid, while metabolizing linoleic acid less effectively. This gene is located in a cluster of related genes and a pseudogene that spans approximately 100 kilobases on the short arm of chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been described. [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; |