OMIA:002273-9685 : Curly coat, Ural Rex in Felis catus
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 604379 (trait) , 607365 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2020
Molecular basis: Manakhov et al. (2020) reported that "A LIPH genetic variant (LIPH :c.478_483del; LIPH:p.Ser160_Gly161del) was found [to be homozygous] in [all tested] Ural Rex cats with curly coats from Russia, but was absent in all other cat breeds tested."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LIPH||lipase, member H||Felis catus||C2||NC_058376.1 (81733051..81780083)||LIPH||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|
|1203||Ural Rex (Cat)||Curly coat, Ural Rex||LIPH||delins, small (<=20)||Naturally occurring variant||Felis_catus_9.0||C2||g.84136341_84136347delinsC||c.477_483delinsC||p.(S160_G161del)||XM_023260327.1; XP_023116095.1; changed from c.478_483del to c.477_483delinsC in accordance with HGVS nomenclature [17/2/2022]||2020||32463158|
|2020||Manakhov, A.D., Andreeva, T.V., Rogaev, E.I. :|
|The curly coat phenotype of the Ural Rex feline breed is associated with a mutation in the lipase H gene. Anim Genet 51:584-9, 2020. Pubmed reference: 32463158 . DOI: 10.1111/age.12958.|
- Created by Frank Nicholas on 02 Jun 2020