| Variant ID | 814 |
|---|---|
| Entrez Gene ID | 151056 |
| Gene | PLB1 (GeneCards) |
| Location | hg19 2:28812331-28812331
hg38 2:28589464-28589464 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.28812331 A>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 610 |
| Amino acid changes in protein | Q > H |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6176 |
| CADD Raw score (version 1.3) | 1.781492 (Deleterious) |
| FATHMM raw prediction score | 0.05457 (Tolerated) |
| SIFT score | 0.082 (Tolerated) |
| LRT score | 0.265 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.28 (Deleterious) |
| PROVEAN score | -2.55 (Deleterious) |
| MetaSVM score | -0.963 (Tolerated) |
| MetaLR score | 0.066 (Tolerated) |
| MCAP score | 0.012 (Tolerated) |
| FitCons score | 0.428 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -1.79 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.648 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.701 |
| Deleterious probability by iFish2 | 0.0239 (Neutral) |
| Deleterious probability by DeFine | 0.7737 (Deleterious) |
| Entrez Gene ID | 151056 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PLB1 (GeneCards) |
| Number of variants in PLB1 in this database | 1 (view all the variants) |
| Full name | phospholipase B1 |
| Band | 2p23.2 |
| Other IDs | Vega: OTTHUMG00000152014 OMIM: 610179 HGNC: HGNC:30041 Ensembl: ENSG00000163803 |
| Other names | PLB, PLB/LIP |
| Summary | This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016] |
| 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; |