OMIA 001623-9925 : Casein, alpha-S2, absence in Capra hircus

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".

Associated gene:

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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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Casein, alpha-S2, absence CSN1S2 nonsense (stop-gain) c.763G>A p.T110* 2001 11419340


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.

Edit History

  • Created by Frank Nicholas on 11 Oct 2011
  • Changed by Frank Nicholas on 11 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 03 Feb 2012