Syndrome des veaux tourneurs (Turning calves syndrome)
Phenotype Details
- Phene ID
- 4111
- Name
- Syndrome des veaux tourneurs (Turning calves syndrome)
- Phene Name
- N/A
- OMIA ID
- 2150
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2017
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 992 | Syndrome des veaux tourneurs (Turning calves syndrome) | 388273417 | 1 | 7 | g.109742796C>T | c.376C>T | p.(R126C) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Rouge des prés, France (Cattle) | 1073 | 9913 | http://purl.obolibrary.org/obo/VBO_0003581 |
Molecular Genetics
Duchesne et al. (2017) identified SNPs in the mapped candidate region by comparison of whole-genome sequence of two homozygous affecteds, one heterozygote and one homozygote normal. Filtering of those SNPs by consistency with presumed genotype based on pedigree, with occurrence only within this breed, and by severity of presumed function enabled Duchesne et al. (2017) to identifiy a "C/T SLC25A46 substitution [c.376C>T that] leads to replacement of an arginine by a cysteine [p.Arg126Cys], in the first transmembrane helix of the protein" as a likely causal variant.