Skeletal-cardio-enteric dysplasia, MAP2K2-related
Phenotype Details
- Phene ID
- 4591
- Name
- Skeletal-cardio-enteric dysplasia, MAP2K2-related
- Phene Name
- skeletal-cardio-enteric dysplasia
- OMIA ID
- 2381
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2021
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1473 | Skeletal-cardio-enteric dysplasia | 388267563 | 1 | 7 | NC_037334.1:g.19923991C>T | NM_001038071.2:c.535G>A | NP_001033160.2:p.(R179W) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Romagnola (Cattle) | 202 | 9913 | http://purl.obolibrary.org/obo/VBO_0000360 |
Summary
Jacinto et al. (2021) characterized "the pathological phenotype of a Romagnola stillborn calf with skeletal-cardio-enteric dysplasia and ... [identified] a genetic cause by whole-genome sequencing (WGS)."
Molecular Genetics
Jacinto et al. (2021): "Genetic analysis revealed a private heterozygous missense variant in MAP2K2:p.Arg179Trp, located in the protein kinase domain in the calf, and not found in more than 4500 control genomes including its sire. The identified variant affecting a conserved residue was predicted to be deleterious and most likely occurred de novo."