PTPN11
This page contains an overview of the genetic variation in the PTPN11 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:
PTPN11 gene and transcript details
Gene Name
protein tyrosine phosphatase, non-receptor type 11
Gene Links
Ensembl: ENSG00000179295 -
Locus Reference Genomic: LRG_614
Genomic Location
Chromosome 12 : 112,856,916 - 112,942,568 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1779 bases) | Protein (593 aa) |
|---|---|---|
 |
ENST00000351677 | ENSP00000340944 |
 |
LRG_614t1 | LRG_614p1 |
 |
NM_002834.3 | |
 |
Summary of PTPN11 in Cardiomyopathies
PTPN11 variants in ExAC
Details of the protein-altering PTPN11 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 | 131 | 0.00189 |
| Truncating | 1 | 0.00001 |
| Missense | 108 | 0.00147 |
| Inframe | 0 | 0.00000 |
| Splice Site | 22 | 0.00042 |