PLEC
This page contains an overview of the genetic variation in the PLEC 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:
PLEC gene and transcript details
Gene Name
plectin
Gene Links
Ensembl: ENSG00000178209 -
Locus Reference Genomic:
Genomic Location
Chromosome 8 : 144,990,345 - 145,049,537 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (13722 bases) | Protein (4574 aa) |
|---|---|---|
 |
ENST00000436759 | ENSP00000388180 |
 |
||
 |
NM_000445.3 | |
 |
Summary of PLEC in Cardiomyopathies
PLEC variants in ExAC
Details of the protein-altering PLEC 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 | 2602 | 0.05351 |
| Truncating | 42 | 0.00046 |
| Missense | 2386 | 0.05031 |
| Inframe | 50 | 0.00081 |
| Splice Site | 124 | 0.00199 |