Lebercilin LCA5 (LCA5) 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_001122769.3 | NP_001116241.1 | NC_000006.12 | (79484990..79538781, complement) | Reference GRCh38.p14 Primary Assembly | - |
| 2 | REVIEWED | NM_181714.4 | NP_859065.2 | NC_000006.12 | (79484990..79538781, 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 Lebercilin LCA5 (LCA5) Mutation Visualization Dashboard: Pathogenic variant distribution chart
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IPI | enables | protein binding | Function | 19800048 22940612 25416956 26638075 27173435 28514442 32296183 35271311 |
| 2 | Homo sapiens | IEA | located_in | centrosome | Component | - |
| 3 | Homo sapiens | IEA | located_in | cytoskeleton | Component | - |
| 4 | Homo sapiens | IDA | located_in | cilium | Component | 21606596 |
| 5 | Homo sapiens | IEA | located_in | cilium | Component | - |
| 6 | Homo sapiens | IBA | is_active_in | axoneme | Component | - |
| 7 | Homo sapiens | IEA | located_in | axoneme | Component | - |
| 8 | Homo sapiens | IEA | involved_in | protein transport | Process | - |
| 9 | Homo sapiens | IDA | located_in | photoreceptor connecting cilium | Component | 21606596 |
| 10 | Homo sapiens | IEA | located_in | photoreceptor connecting cilium | Component | - |
| 11 | Homo sapiens | IEA | located_in | ciliary basal body | Component | - |
| 12 | Homo sapiens | ISS | located_in | ciliary basal body | Component | - |
| 13 | Homo sapiens | IBA | involved_in | intraciliary transport | Process | - |
| 14 | Homo sapiens | IDA | enables | protein-containing complex binding | Function | 21606596 |
| 15 | Homo sapiens | ISS | acts_upstream_of_or_within | photoreceptor cell maintenance | Process | - |
| 16 | Homo sapiens | IDA | located_in | ciliary tip | Component | - |