EIF2S1
This page contains an overview of the genetic variation in the EIF2S1 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:
EIF2S1 gene and transcript details
Gene Name
eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa
Gene Links
Ensembl: ENSG00000134001 -
Locus Reference Genomic:
Genomic Location
Chromosome 14 : 67,831,485 - 67,850,157 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (945 bases) | Protein (315 aa) |
|---|---|---|
 |
ENST00000256383 | ENSP00000256383 |
 |
||
 |
NM_004094.4 | |
 |
P05198 |
Summary of EIF2S1 in Cardiomyopathies
EIF2S1 variants in ExAC
Details of the protein-altering EIF2S1 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 | 51 | 0.00092 |
| Truncating | 2 | 0.00002 |
| Missense | 40 | 0.00072 |
| Inframe | 0 | 0.00000 |
| Splice Site | 9 | 0.00017 |