Glycogen storage disease V
- Phene ID
- 1891
- Name
- Glycogen storage disease V
- Phene Name
- Myophosphorylase deficiency
- OMIA ID
- 1139
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 1996
| Symbol | Gene ID | Chromosome | Description |
|---|---|---|---|
| PYGM | 327664 | 29 | phosphorylase, glycogen, muscle |
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 193 | Glycogen storage disease V | 327664 | 1 | 29 | NC_037356.1:g.42991370G>A | NM_175786.2:c.1468C>T | NP_786980.1:p.(R490W) |
| 1688 | Glycogen storage disease V | 327664 | 1 | 29 | NC_037356.1:g.42989581G>A | NM_175786.2 c.1948C>T | NP_786980.1:p.(R650*) |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Charolais (Cattle) | 19 | 9913 | http://purl.obolibrary.org/obo/VBO_0000177 |
| Red Angus (Cattle) | 176 | 9913 | http://purl.obolibrary.org/obo/VBO_0000350 |
The first occurrence of this disorder in any domestic species was reported by Angelos et al. (1995), in Charolais cattle.
As reported by Angelos et al. (1995), six calves from a single Charolais herd were diagnosed after one of the calves was presented to the Veterinary Medical Teaching Hospital of the School of Veterinary Medicine at the University of California, Davis. The sire and dam of each of the six calves had a common ancestor. The data were consistent with autosomal recessive inheritance.
Batt et al. (2024) pedigre analysis of the Red Angus composite cattle identified a founder Red Angus sire.
By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Tsujino et al. (1996) showed that the disorder in these Charolais cattle is due to a missense mutation in codon 489 of the gene for myophosphorylase.
Batt et al. (2024): "A genome-wide association analysis utilizing SNP data from 6 affected [Red Angus cpmposite] calves and 715 herd mates, followed by whole-genome sequencing of 2 affected calves led to the identification of a variant in the gene PYGM (BTA29:g.42989581G > A). The variant, confirmed to be present in the skeletal muscle transcriptome, was predicted to produce a premature stop codon (p.Arg650*)."