SRI
This page contains an overview of the genetic variation in the SRI 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:
SRI gene and transcript details
Gene Name
sorcin
Gene Links
Ensembl: ENSG00000075142 -
Locus Reference Genomic: LRG_414
Genomic Location
Chromosome 7 : 87,835,793 - 87,849,341 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (594 bases) | Protein (198 aa) |
|---|---|---|
 |
ENST00000265729 | ENSP00000265729 |
 |
LRG_414t1 | LRG_414p1 |
 |
NM_003130.2 | |
 |
P30626 |
Summary of SRI in Cardiomyopathies
HCM - Hypertrophic Cardiomyopathy - explore in detailBased on a detailed analysis of the role of SRI in HCM (see study in the
European Heart Journal),
it is classified as:
No Evidence.
SRI variants in ExAC
Details of the protein-altering SRI 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 | 89 | 0.00122 |
| Truncating | 8 | 0.00015 |
| Missense | 69 | 0.00092 |
| Inframe | 0 | 0.00000 |
| Splice Site | 12 | 0.00015 |