OMIA 002232-9823 : Myopathy, congenital, SPTBN4-related in Sus scrofa
|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.
|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|
|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.|
- Created by Frank Nicholas on 28 Jan 2020
- Changed by Frank Nicholas on 28 Jan 2020