| Variant ID | 935 |
|---|---|
| Entrez Gene ID | 5153 |
| Gene | PDE1B (GeneCards) |
| Location | hg19 12:54969841-54969841
hg38 12:54576057-54576057 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000012.11:g.54969841 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 308 |
| Amino acid changes in protein | Q > * |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6747 |
| CADD Raw score (version 1.3) | 13.347952 (Deleterious) |
| FATHMM raw prediction score | 0.98424 (Tolerated) |
| LRT score | 0.007 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.95 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.521 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.007 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.067 |
| Deleterious probability by DeFine | 0.8685 (Deleterious) |
| Entrez Gene ID | 5153 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDE1B (GeneCards) |
| Number of variants in PDE1B in this database | 3 (view all the variants) |
| Full name | phosphodiesterase 1B |
| Band | 12q13.2 |
| Other IDs | Vega: OTTHUMG00000169844 OMIM: 171891 HGNC: HGNC:8775 Ensembl: ENSG00000123360 |
| Other names | PDE1B1, PDES1B, HEL-S-79p |
| Summary | The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] |
| 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; |