Phosphodiesterase 6A (PDE6A) Associated conditions: 1. Retinitis pigmentosa 2. Leber congenital amaurosis
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_000440.3 | NP_000431.2 | NC_000005.10 | (149857952..149944792, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_001410788.1 | NP_001397717.1 | NC_000005.10 | (149857952..149944792, complement) | Reference GRCh38.p14 Primary Assembly | - |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Phosphodiesterase 6A (PDE6A) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Phosphodiesterase 6A (PDE6A)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IEA | located_in | photoreceptor outer segment | Component | - |
| 2 | Homo sapiens | IEA | enables | 3',5'-cyclic-nucleotide phosphodiesterase activity | Function | - |
| 3 | Homo sapiens | IBA | enables | 3',5'-cyclic-AMP phosphodiesterase activity | Function | - |
| 4 | Homo sapiens | IEA | located_in | plasma membrane | Component | - |
| 5 | Homo sapiens | TAS | located_in | plasma membrane | Component | - |
| 6 | Homo sapiens | IEA | involved_in | signal transduction | Process | - |
| 7 | Homo sapiens | IEA | involved_in | visual perception | Process | - |
| 8 | Homo sapiens | IMP | involved_in | visual perception | Process | 8394174 10393062 |
| 9 | Homo sapiens | TAS | involved_in | visual perception | Process | 7493036 |
| 10 | Homo sapiens | IEA | enables | phosphoric diester hydrolase activity | Function | - |
| 11 | Homo sapiens | IEA | enables | hydrolase activity | Function | - |
| 12 | Homo sapiens | IBA | is_active_in | photoreceptor outer segment membrane | Component | - |
| 13 | Homo sapiens | IDA | is_active_in | photoreceptor outer segment membrane | Component | 20940301 |
| 14 | Homo sapiens | ISS | located_in | photoreceptor outer segment membrane | Component | - |
| 15 | Homo sapiens | IEA | enables | metal ion binding | Function | - |
| 16 | Homo sapiens | IBA | enables | 3',5'-cyclic-GMP phosphodiesterase activity | Function | - |
| 17 | Homo sapiens | IDA | contributes_to | 3',5'-cyclic-GMP phosphodiesterase activity | Function | 20940301 |
| 18 | Homo sapiens | IEA | enables | 3',5'-cyclic-GMP phosphodiesterase activity | Function | - |
| 19 | Homo sapiens | ISS | enables | 3',5'-cyclic-GMP phosphodiesterase activity | Function | - |
| 20 | Homo sapiens | IBA | involved_in | retina development in camera-type eye | Process | - |
| 21 | Homo sapiens | IEA | located_in | photoreceptor disc membrane | Component | - |
| 22 | Homo sapiens | TAS | located_in | photoreceptor disc membrane | Component | - |
| 23 | Homo sapiens | IBA | involved_in | negative regulation of cAMP/PKA signal transduction | Process | - |
| 24 | Homo sapiens | IDA | part_of | rod photoreceptor phosphodiesterase 6 complex | Component | 20940301 |