OMIA:002232-9823 : Myopathy, congenital, SPTBN4-related in Sus scrofa (pig)
Categories: Nervous system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2019
|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|
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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 (Pig)||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|
Cite this entry
|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.|
- Created by Frank Nicholas on 28 Jan 2020
- Changed by Frank Nicholas on 28 Jan 2020