OMIA 002232-9823 : Myopathy, congenital, SPTBN4-related in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 617519

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

Breed: Synthetic.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SPTBN4 spectrin, beta, non-erythrocytic 4 Sus scrofa 6 NC_010448.4 (48729839..48812799) SPTBN4 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.

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
Synthetic Myopathy, congenital, SPTBN4-related SPTBN4 deletion, small (<=20) Sscrofa11.1 6 g.48,801,280delGACGGTGTACGCCGGT p.Arg1902fs Derks et al. (2019): ENSSSCP00000031537:p.Arg1902fs 2019 31850074

Reference


2019 Derks, M.F.L., Harlizius, B., Lopes, M.S., Greijdanus-van der Putten, S.W.M., Dibbits, B., Laport, K., Megens, H.J., Groenen, M.A.M. :
Detection of a Frameshift Deletion in the <i>SPTBN4</i> Gene Leads to Prevention of Severe Myopathy and Postnatal Mortality in Pigs. Front Genet 10:1226, 2019. Pubmed reference: 31850074. DOI: 10.3389/fgene.2019.01226.

Edit History


  • Created by Frank Nicholas on 28 Jan 2020
  • Changed by Frank Nicholas on 28 Jan 2020