OMIA 000852-9925 : Casein, alpha-S1, reduced concentration in Capra hircus

See the equivalent entry at NCBI

Possible human homologue (MIM number): 115450

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key mutation known: yes

Year key mutation first reported: 1994

Molecular basis: Perez et al. (1994) reported that the E allele of the goat alpha(s1)-casein gene, which is associated with reduced casein concentration, contains "a 457-bp insertion within exon 19 (last untranslated exon). This insert is a truncated long interspersed repeated element (LINE) containing part of the ORF-2, the 3' UTR and the poly(A) tail of the original retroposon."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CSN1S1 casein alpha s1 Capra hircus 6 NC_030813.1 (85978463..85995270) CSN1S1 Homologene, Ensembl, NCBI gene

Variants

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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-S1, reduced concentration CSN1S1 insertion, gross (>20) "a 457-bp insertion within exon 19 (last untranslated exon). This insert is a truncated long interspersed repeated element (LINE) containing part of the ORF-2, the 3' UTR and the poly(A) tail of the original retroposon." 1994 7926797

Reference


1994 Perez, M.J., Leroux, C., Bonastre, A.S., Martin, P. :
Occurrence of a LINE sequence in the 3' UTR of the goat alpha(s1)-casein E-encoding allele associated with reduced protein synthesis level Gene 147:179-187, 1994. Pubmed reference: 7926797.

Edit History


  • Created by Frank Nicholas on 17 Nov 2005
  • Changed by Frank Nicholas on 11 Oct 2011
  • Changed by Frank Nicholas on 17 Nov 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 03 Feb 2012