PTBP1
This page contains an overview of the genetic variation in the PTBP1 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:
PTBP1 gene and transcript details
Gene Name
polypyrimidine tract binding protein 1
Gene Links
Ensembl: ENSG00000011304 -
Locus Reference Genomic:
Genomic Location
Chromosome 19 : 797,498 - 810,826 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1671 bases) | Protein (557 aa) |
|---|---|---|
 |
ENST00000356948 | ENSP00000349428 |
 |
||
 |
NM_002819.4 | |
 |
Summary of PTBP1 in Cardiomyopathies
PTBP1 variants in ExAC
Details of the protein-altering PTBP1 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 | 245 | 0.00380 |
| Truncating | 2 | 0.00002 |
| Missense | 182 | 0.00289 |
| Inframe | 10 | 0.00018 |
| Splice Site | 51 | 0.00072 |