Glycogen storage disease II
Phenotype Details
- Phene ID
- 725
- Name
- Glycogen storage disease II
- Phene Name
- N/A
- OMIA ID
- 419
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2000
Linked Genes
| Symbol | Gene ID | Chromosome | Description |
|---|---|---|---|
| GAA | 280798 | 19 | glucosidase, alpha; acid |
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 294 | Glycogen storage disease II | 280798 | 1 | 19 | NC_037346.1:g.52488949G>A | NM_173913.2:c.1783C>T | NP_776338.1:p.(R595*) |
| 487 | Glycogen storage disease II | 280798 | 1 | 19 | NC_037346.1:g.52492405_52492406del | NM_173913.2:c.1057_1058del | NP_776338.1:p.(Y353L) |
| 488 | Glycogen storage disease II | 280798 | 1 | 19 | NC_037346.1:g.52484973_52484974del | NM_173913.2:c.2454_2455del | NP_776338.1:p.(T819R) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Blanco Orejinegro, Colombia (Cattle) | 1340 | 9913 | http://purl.obolibrary.org/obo/VBO_0004602 |
| Brahman (Cattle) | 24 | 9913 | http://purl.obolibrary.org/obo/VBO_0000159 |
| Droughtmaster (Cattle) | 644 | 9913 | http://purl.obolibrary.org/obo/VBO_0000196 |
| Shorthorn (Cattle) | 76 | 9913 | http://purl.obolibrary.org/obo/VBO_0000375 |
Molecular Genetics
By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Dennis et al. (2000) identified two causal mutations in Brahman cattle, namely a frameshifting 2-bp deletion (c.1057delTA; the "E7" mutation) and a nonsense mutation (c.1783C>T; p.Arg595Ter; the "E13" mutation) in the bovine GAA gene; and a 2-bp frameshifting deletion (c.2454delCA; the "E18" mutation) in Shorthorns.
Genetic Test
Dennis et al. (2000) developed allele-specific amplification and double mismatch amplification procedures for genotyping the exon 18 alleles in the acidic alpha-glucosidase gene (Mohammad Shariflou 13/11/2006).