GAA
This page contains an overview of the genetic variation in the GAA 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:
GAA gene and transcript details
Gene Name
glucosidase, alpha; acid
Gene Links
Ensembl: ENSG00000171298 -
Locus Reference Genomic: LRG_673
Genomic Location
Chromosome 17 : 78,078,386 - 78,093,130 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (2856 bases) | Protein (952 aa) |
|---|---|---|
 |
ENST00000302262 | ENSP00000305692 |
 |
LRG_673t1 | LRG_673p1 |
 |
NM_000152.3 | |
 |
P10253 |
Summary of GAA in Cardiomyopathies
GAA variants in ExAC
Details of the protein-altering GAA 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 | 547 | 0.01048 |
| Truncating | 47 | 0.00062 |
| Missense | 433 | 0.00866 |
| Inframe | 4 | 0.00005 |
| Splice Site | 63 | 0.00117 |