LTBP2
This page contains an overview of the genetic variation in the LTBP2 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:
LTBP2 gene and transcript details
Gene Name
latent transforming growth factor beta binding protein 2
Gene Links
Ensembl: ENSG00000119681 -
Locus Reference Genomic:
Genomic Location
Chromosome 14 : 74,967,587 - 75,078,647 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (5463 bases) | Protein (1821 aa) |
|---|---|---|
 |
ENST00000261978 | ENSP00000261978 |
 |
||
 |
NM_000428.2 | |
 |
Q14767 |
Summary of LTBP2 in Cardiomyopathies
LTBP2 variants in ExAC
Details of the protein-altering LTBP2 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 | 823 | 0.01471 |
| Truncating | 28 | 0.00037 |
| Missense | 719 | 0.01309 |
| Inframe | 6 | 0.00006 |
| Splice Site | 70 | 0.00119 |