OMIA 002298-9913 : Neuropathy with splayed forelimbs, UCHL1-related in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|UCHL1||ubiquitin C-terminal hydrolase L1||Bos taurus||6||NC_037333.1 (60147511..60159287)||UCHL1||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|
|1409||Jersey||Neuropathy with splayed forelimbs||UCHL1||JNS||missense||Naturally occurring variant||ARS-UCD1.2||6||g.60158901G>A||c.979G>A||p.(E327K)||Several transcripts are reported: ENSBTAT00000046823.2:c.718G>A ENSBTAP00000044075.1:p.Glu240Lys ENSBTAT00000066434.1:c.931G>A ENSBTAP00000063885.1:p.Glu311Lys ENSBTAT00000072800.1:c.979G>A ENSBTAP00000059848.1:p.Glu327Lys ENSBTAT00000074165.1:c.706G>A ENSBTAP00000057432.1:p.Glu236Lys||rs1116058914||rs1116058914||2022||34955244|
|2022||Al-Khudhair, A., Null, D.J., Cole, J.B., Wolfe, C.W., Steffen, D.J., VanRaden, P.M. :|
|Inheritance of a mutation causing neuropathy with splayed forelimbs in Jersey cattle. J Dairy Sci 105:1338-1345, 2022. Pubmed reference: 34955244. DOI: 10.3168/jds.2021-20600.|
- Created by Frank Nicholas on 26 Nov 2020
- Changed by Frank Nicholas on 26 Nov 2020
- Changed by Imke Tammen2 on 11 Jan 2022
- Changed by Imke Tammen2 on 29 Jan 2022