OMIA 002273-9685 : Curly coat, Ural Rex in Felis catus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 604379 (trait) , 607365 (gene)

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."

Associated gene:

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

Variants

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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 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

Reference


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.

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  • Created by Frank Nicholas on 02 Jun 2020