OMIA 002226-9913 : Lipid malabsorption, ACSL5-related in Bos taurus |
Information about the BH34 haplotype is described in this entry.
Mapping: Häfliger et al. (2021) “The BS dataset included 48,807 genotyped animals, with 14,450 trios [trio: sire, dam, and offspring]." The BH34 haplotype was mapped to Chr26:31353340-32429589 (ARSUCD1.2). Molecular basis: Häfliger et al. (2021) “Whole-genome sequencing data of 430 cattle including 70 putative haplotype carriers were mined to identify potential candidate variants that were validated by genotyping the current population using a custom array.”BH34 Haplotype: ACSL5, chr26:32940521, NM_001075650.1, c.528C>G, p.Asn176Lys
Breed: Brown Swiss. Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
ACSL5 | acyl-CoA synthetase long-chain family member 5 | Bos taurus | 26 | NC_037353.1 (32906449..32957884) | ACSL5 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1419 | Brown Swiss | Haplotype with homozygous deficiency BH34 | ACSL5 | BH34 | missense | Naturally occurring variant | ARS-UCD1.2 | 26 | g.32940521C>G | c.528C>G | p.(N176K) | NM_001075650.1 | 2021 | 34915862 |
Reference
2021 | Häfliger, I.M., Seefried, F.R., Spengeler, M., Drögemüller, C. : | |
Mining massive genomic data of two Swiss Braunvieh cattle populations reveals six novel candidate variants that impair reproductive success. Genet Sel Evol 53:95, 2021. Pubmed reference: 34915862. DOI: 10.1186/s12711-021-00686-3. |
Edit History
- Created by Imke Tammen2 on 14 Jan 2022