SGCB
This page contains an overview of the genetic variation in the SGCB 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:
SGCB gene and transcript details
Gene Name
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
Gene Links
Ensembl: ENSG00000163069 -
Locus Reference Genomic: LRG_204
Genomic Location
Chromosome 4 : 52,890,123 - 52,904,425 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (954 bases) | Protein (318 aa) |
|---|---|---|
 |
ENST00000381431 | ENSP00000370839 |
 |
LRG_204t1 | LRG_204p1 |
 |
NM_000232.4 | |
 |
Q16585 |
Summary of SGCB in Cardiomyopathies
SGCB variants in ExAC
Details of the protein-altering SGCB 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 | 133 | 0.00187 |
| Truncating | 7 | 0.00007 |
| Missense | 120 | 0.00174 |
| Inframe | 1 | 0.00001 |
| Splice Site | 5 | 0.00004 |