OMIA:001623-9925 : Casein, alpha-S2, absence in Capra hircus
Categories: Endocrine / exocrine gland phene (incl mammary gland)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2001
Molecular basis: Ramunno et al. (2001) reported a null allele of the goat alpha s2-casein gene (CSN1S2) having "a G-->A transition at nucleotide 80 of the 11th exon which creates a stop codon and could be responsible for the absence of the alpha s2-casein in goat milk".
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CSN1S2||casein alpha s2||Capra hircus||-||no genomic information (-..-)||CSN1S2||Homologene, Ensembl , NCBI gene|
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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|
|907||Casein, alpha-S2, absence||CSN1S2||nonsense (stop-gain)||Naturally occurring variant||ARS1||6||g.86085134G>A||c.763G>A||p.(T110*)||rs268293093||rs268293093||2001||11419340||The genomic location on ARS1 was determined by Katie Eager, EMAI, NSW Department of Primary Industries|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2022||Rahmatalla, S.A., Arends, D., Brockmann, G.A. :|
|Review: Genetic and protein variants of milk caseins in goats. Front Genet 13:995349, 2022. Pubmed reference: 36568379 . DOI: 10.3389/fgene.2022.995349.|
|2001||Ramunno, L., Longobardi, E., Pappalardo, M., Rando, A., Di Gregorio, P., Cosenza, G., Mariani, P., Pastore, N., Masina, P. :|
|An allele associated with a non-detectable amount of alpha s2 casein in goat milk. Anim Genet 32:19-26, 2001. Pubmed reference: 11419340 .|
- Changed by Frank Nicholas on 11 Oct 2011
- Created by Frank Nicholas on 11 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 03 Feb 2012