PCSK9
This page contains an overview of the genetic variation in the PCSK9 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:
PCSK9 gene and transcript details
Gene Name
proprotein convertase subtilisin/kexin type 9
Gene Links
Ensembl: ENSG00000169174 -
Locus Reference Genomic: LRG_275
Genomic Location
Chromosome 1 : 55,505,511 - 55,529,257 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (2076 bases) | Protein (692 aa) |
|---|---|---|
 |
ENST00000302118 | ENSP00000303208 |
 |
LRG_275t1 | LRG_275p1 |
 |
NM_174936.3 | |
 |
Q8NBP7 |
Summary of PCSK9 in Cardiomyopathies
PCSK9 variants in ExAC
Details of the protein-altering PCSK9 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 | 338 | 0.00635 |
| Truncating | 30 | 0.00052 |
| Missense | 264 | 0.00537 |
| Inframe | 6 | 0.00005 |
| Splice Site | 38 | 0.00043 |