OMIA 002183-9823 : Abortion due to haplotype LA3 in Sus scrofa
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PNKP||polynucleotide kinase 3'-phosphatase||Sus scrofa||6||NC_010448.4 (54880814..54870359)||PNKP||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|
|Landrace||Embryonic lethality||PNKP||missense||Sscrofa11.1||6||g.54880241G>T||p.Gln96Arg||Derks et al. (2019): "deleterious missense mutation in the PNKP gene (6:g.54880241G>T), predicted to be strongly deleterious by SIFT (0.02) and PROVEAN (-2.9). The missense mutation causes a glutamine to arginine amino acid substitution (ENSSSCP00000003467:p.Gln96Arg)"||2019||30875370|
|2019||Derks, M.F.L., Gjuvsland, A.B., Bosse, M., Lopes, M.S., van Son, M., Harlizius, B., Tan, B.F., Hamland, H., Grindflek, E., Groenen, M.A.M., Megens, H.J. :|
|Loss of function mutations in essential genes cause embryonic lethality in pigs. PLoS Genet 15:e1008055, 2019. Pubmed reference: 30875370. DOI: 10.1371/journal.pgen.1008055.|
- Created by Frank Nicholas on 26 Mar 2019
- Changed by Frank Nicholas on 26 Mar 2019