SCO2
This page contains an overview of the genetic variation in the SCO2 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:
SCO2 gene and transcript details
Gene Name
SCO2 cytochrome c oxidase assembly protein
Gene Links
Ensembl: ENSG00000130489 -
Locus Reference Genomic:
Genomic Location
Chromosome 22 : 50,962,040 - 50,962,840 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (798 bases) | Protein (266 aa) |
|---|---|---|
 |
ENST00000395693 | ENSP00000379046 |
 |
||
 |
NM_005138.2 | |
 |
O43819 |
Summary of SCO2 in Cardiomyopathies
SCO2 variants in ExAC
Details of the protein-altering SCO2 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 | 159 | 0.00319 |
| Truncating | 12 | 0.00018 |
| Missense | 143 | 0.00293 |
| Inframe | 3 | 0.00003 |
| Splice Site | 1 | 0.00006 |