| Variant ID | 1076 |
|---|---|
| Entrez Gene ID | 9581 |
| Gene | PREPL (GeneCards) |
| Location | hg19 2:44550517-44550517
hg38 2:44323378-44323378 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.44550517 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 594 |
| Amino acid changes in protein | D > N |
| 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 | 0.66 |
| CADD Raw score (version 1.3) | 5.810668 (Deleterious) |
| FATHMM raw prediction score | 0.92849 (Tolerated) |
| SIFT score | 0.073 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.105 (Deleterious) |
| PROVEAN score | -4.4 (Deleterious) |
| MetaSVM score | -0.876 (Tolerated) |
| MetaLR score | 0.164 (Tolerated) |
| MCAP score | 0.019 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.5 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.334 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.133 |
| Deleterious probability by iFish2 | 0.0763 (Neutral) |
| Deleterious probability by DeFine | 0.9234 (Deleterious) |
| Entrez Gene ID | 9581 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PREPL (GeneCards) |
| Number of variants in PREPL in this database | 1 (view all the variants) |
| Full name | prolyl endopeptidase like |
| Band | 2p21 |
| Other IDs | Vega: OTTHUMG00000152791 OMIM: 609557 HGNC: HGNC:30228 Ensembl: ENSG00000138078 |
| Other names | CMS22 |
| Summary | The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010] |
| 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; |