Hyperekplexia, GLRA1-related
Phenotype Details
- Phene ID
- 1290
- Name
- Hyperekplexia, GLRA1-related
- Phene Name
- inherited myoclonus; congenital myoclonus; neuraxial (o)edema
- OMIA ID
- 689
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2001
Linked Genes
| Symbol | Gene ID | Chromosome | Description |
|---|---|---|---|
| GLRA1 | 281783 | 7 | glycine receptor alpha 1 |
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 302 | Myoclonus | 281783 | 1 | 7 | NC_037334.1:g.63070074G>T | NM_174321.2:c.156C>A | NP_776746.1:p.(Y52*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Polled Hereford (Cattle) | 95 | 9913 | http://purl.obolibrary.org/obo/VBO_0000341 |
Molecular Genetics
By cloning and sequencing a very likely comparative candidate gene (based on the homologous disorder in humans and mice), Pierce et al. (2001) identified a causal mutation as a "a cytidine to adenine transversion at position 156 of the Glra1 gene (156C>A). The 156A allele is predicted to substitute a termination codon for a tyrosine codon (Y24*) in exon 2 . . . This substitution is predicted to result in a prematurely truncated protein that lacks ligand-binding and membrane-spanning domains".