Haplotype with homozygous deficiency HH6
Phenotype Details
- Phene ID
- 4110
- Name
- Haplotype with homozygous deficiency HH6
- Phene Name
- N/A
- OMIA ID
- 2149
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2018
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 990 | Abortion due to haplotype HH6 | 388274370 | 1 | 16 | NC_037343.1:g.29020700A>G | NM_001099065.2:c.2T>C | NP_001092535.1:p.(M1?) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein (black and white) (Cattle) | 39 | 9913 | http://purl.obolibrary.org/obo/VBO_0000237 |
Molecular Genetics
Within the mapped candidate region (see Mapping section), Fritz et al. (2018) identified a likely causal variant as "an A-to-G transition at position 29,773,628 bp on chromosome 16 (g.29773628A>G; rs434666183)". The authors explained that "This A-to-G transition changes the initiator ATG (methionine) codon to ACG because the gene is transcribed on the reverse strand. . . . Initiation of translation at the closest in-frame Met codon would truncate SDE2 by 83 amino acids, including an 8-amino acid motif conserved among eukaryotes".