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

Variants

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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.

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

Reference


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