Cilia and flagella associated protein 410 (CFAP410) 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_001271440.2 | NP_001258369.1 | NC_000021.9 | (44328943..44339389, complement) | Reference GRCh38.p14 Primary Assembly | O43822 |
| 2 | REVIEWED | NM_001271441.2 | NP_001258370.1 | NC_000021.9 | (44328943..44339389, complement) | Reference GRCh38.p14 Primary Assembly | O43822 |
| 3 | REVIEWED | NM_001271442.1 | NP_001258371.1 | NC_000021.9 | (44328943..44339389, complement) | Reference GRCh38.p14 Primary Assembly | O43822 |
| 4 | REVIEWED | NM_004928.3 | NP_004919.1 | NC_000021.9 | (44328943..44339389, complement) | Reference GRCh38.p14 Primary Assembly | O43822 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Cilia and flagella associated protein 410 (CFAP410) 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 | IDA | located_in | photoreceptor outer segment | Component | 27548899 |
| 2 | Homo sapiens | IEA | located_in | photoreceptor outer segment | Component | - |
| 3 | Homo sapiens | IPI | enables | protein binding | Function | 25416956 26167768 26290490 32296183 |
| 4 | Homo sapiens | IDA | located_in | cytoplasm | Component | 21834987 26290490 |
| 5 | Homo sapiens | IEA | located_in | cytoplasm | Component | - |
| 6 | Homo sapiens | IDA | located_in | mitochondrion | Component | 9325172 |
| 7 | Homo sapiens | IEA | located_in | mitochondrion | Component | - |
| 8 | Homo sapiens | IDA | located_in | cytosol | Component | - |
| 9 | Homo sapiens | IDA | located_in | plasma membrane | Component | 21834987 |
| 10 | Homo sapiens | IEA | involved_in | DNA damage response | Process | - |
| 11 | Homo sapiens | IBA | involved_in | cytoskeleton organization | Process | - |
| 12 | Homo sapiens | IEA | involved_in | cell projection organization | Process | - |
| 13 | Homo sapiens | IEA | located_in | photoreceptor connecting cilium | Component | - |
| 14 | Homo sapiens | ISS | located_in | photoreceptor connecting cilium | Component | - |
| 15 | Homo sapiens | IDA | located_in | ciliary basal body | Component | 26167768 26294103 |
| 16 | Homo sapiens | IEA | located_in | ciliary basal body | Component | - |
| 17 | Homo sapiens | IEA | located_in | photoreceptor cell cilium | Component | - |