OMIA 002131-9685 : Methaemoglobinaemia, CYB5R3-related in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CYB5R3||Felis catus||-||no genomic information (-..-)||CYB5R3||Ensembl|
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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|
|1155||Domestic Shorthair||Methaemoglobinaemia, CYB5R3-related||CYB5R3||missense||Naturally occurring variant||Felis_catus_9.0||B4||g.137967506C>T||c.625G>A||p.(G209S)||Jaffey e al. (2019): "p.Gly209Ser amino acid change in transcript CYB5R3-202 (ENSFCAT00000056925) at position B4:137967506"||2019||31650629|
|1156||Domestic Shorthair||Methaemoglobinaemia, CYB5R3-related||CYB5R3||splicing||Naturally occurring variant||Felis_catus_9.0||B4||g.137970815C>G||c.232-1G>C||Jaffey et al. (2019): "a putative loss of function splice acceptor variant at c.232-1G>C in the CYB5R3-202 transcript (ENSFCAT00000056925) at position B4:137970815 that is in the acceptor site for exon 4, which likely affects downstream translation of the protein."||2019||31650629|
|2019||Jaffey, J.A., Reading, N.S., Giger, U., Abdulmalik, O., Buckley, R.M., Johnstone, S., Lyons, L.A. :|
|Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in cats. J Vet Intern Med 33:2725-2731, 2019. Pubmed reference: 31650629. DOI: 10.1111/jvim.15637.|
- Created by Frank Nicholas on 03 Feb 2020
- Changed by Frank Nicholas on 03 Feb 2020