PLOD3
This page contains an overview of the genetic variation in the PLOD3 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
PLOD3 gene and transcript details
Gene Name
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
Gene Links
Ensembl: ENSG00000106397 -
Locus Reference Genomic:
Genomic Location
Chromosome 7 : 100,849,562 - 100,860,555 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (2214 bases) | Protein (738 aa) |
|---|---|---|
 |
ENST00000223127 | ENSP00000223127 |
 |
||
 |
NM_001084.4 | |
 |
O60568 |
Summary of PLOD3 in Cardiomyopathies
PLOD3 variants in ExAC
Details of the protein-altering PLOD3 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 400 | 0.00620 |
| Truncating | 23 | 0.00026 |
| Missense | 321 | 0.00531 |
| Inframe | 2 | 0.00003 |
| Splice Site | 54 | 0.00063 |