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

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 617519 (trait) , 606214 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

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

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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
1149 Large White Myopathy, congenital, SPTBN4-related SPTBN4 deletion, small (<=20) Naturally occurring variant Sscrofa11.1 6 g.48801281_48801296del p.(R1902fs) 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 SPTBN4 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