PDZ and LIM domain 3 (PDLIM3) Associated conditions: 1. Restrictive cardiomyopathy
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001114107.5 | NP_001107579.1 | NC_000004.12 | (185500659..185535506, complement) | Reference GRCh38.p14 Primary Assembly | Q53GG5 |
| 2 | REVIEWED | NM_001257962.2 | NP_001244891.1 | NC_000004.12 | (185500659..185535506, complement) | Reference GRCh38.p14 Primary Assembly | Q53GG5 |
| 3 | REVIEWED | NM_001257963.2 | NP_001244892.1 | NC_000004.12 | (185500659..185535506, complement) | Reference GRCh38.p14 Primary Assembly | Q53GG5 |
| 4 | REVIEWED | NM_014476.6 | NP_055291.2 | NC_000004.12 | (185500659..185535506, complement) | Reference GRCh38.p14 Primary Assembly | Q53GG5 |
| 5 | REVIEWED | NR_047562.2 | - | NC_000004.12 | (185500659..185535506, complement) | Reference GRCh38.p14 Primary Assembly | Q53GG5 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information PDZ and LIM domain 3 (PDLIM3) 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 | IBA | is_active_in | stress fiber | Component | - |
| 2 | Homo sapiens | IBA | enables | actin binding | Function | - |
| 3 | Homo sapiens | IPI | enables | protein binding | Function | 23414517 25416956 25910212 31515488 |
| 4 | Homo sapiens | IDA | located_in | cytosol | Component | - |
| 5 | Homo sapiens | IBA | is_active_in | adherens junction | Component | - |
| 6 | Homo sapiens | IBA | involved_in | heart development | Process | - |
| 7 | Homo sapiens | IEA | enables | cytoskeletal protein binding | Function | - |
| 8 | Homo sapiens | IEA | enables | structural constituent of muscle | Function | - |
| 9 | Homo sapiens | IEA | located_in | actin cytoskeleton | Component | - |
| 10 | Homo sapiens | IBA | is_active_in | Z disc | Component | - |
| 11 | Homo sapiens | IEA | located_in | Z disc | Component | - |
| 12 | Homo sapiens | IBA | involved_in | actin cytoskeleton organization | Process | - |
| 13 | Homo sapiens | IBA | part_of | filamentous actin | Component | - |
| 14 | Homo sapiens | IEA | enables | metal ion binding | Function | - |
| 15 | Homo sapiens | IBA | enables | muscle alpha-actinin binding | Function | - |
| 16 | Homo sapiens | IBA | involved_in | muscle structure development | Process | - |