| Variant ID | 1035 |
|---|---|
| Entrez Gene ID | 37 |
| Gene | ACADVL (GeneCards) |
| Location | hg19 17:7124263-7124263
hg38 17:7220944-7220944 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000017.10:g.7124263 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 144 |
| Amino acid changes in protein | K > K |
| 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 | 2.7195 |
| CADD Raw score (version 1.3) | 1.560048 (Deleterious) |
| FATHMM raw prediction score | 0.94077 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.442 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.27 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.605 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.166 |
| Deleterious probability by DeFine | 0.9152 (Deleterious) |
| Entrez Gene ID | 37 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ACADVL (GeneCards) |
| Number of variants in ACADVL in this database | 1 (view all the variants) |
| Full name | acyl-CoA dehydrogenase very long chain |
| Band | 17p13.1 |
| Other IDs | Vega: OTTHUMG00000102157 OMIM: 609575 HGNC: HGNC:92 Ensembl: ENSG00000072778 |
| Other names | ACAD6, LCACD, VLCAD |
| Summary | The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [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; |