OMIA 002304-9685 : Cardiomyopathy, hypertrophic, TNNT2 related in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TNNT2||troponin T type 2 (cardiac)||Felis catus||F1||NC_018739.3 (42214083..42194772)||TNNT2||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|
|Maine Coon||Cardiomyopathy, hypertrophic||TNNT2||splicing||Felis_catus_9.0||F1||g.42204052C>T||c.95-108G>A||This particular variant was a single base pair substitution (G to A) within intron 3, corresponding to c.95-108G > A of ENSFCAG00000004613 (McNamara et al., 2020)||2020||33304277|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2020||McNamara, J.W., Schuckman, M., Becker, R.C., Sadayappan, S. :|
|A novel homozygous intronic variant in TNNT2 associates with feline cardiomyopathy. Front Physiol 11:608473, 2020. Pubmed reference: 33304277. DOI: 10.3389/fphys.2020.608473.|
|2005||Drourr, L., Lefbom, B.K., Rosenthal, S.L., Tyrrell, W.D. :|
|Measurement of M-mode echocardiographic parameters in healthy adult Maine Coon cats. J Am Vet Med Assoc 226:734-7, 2005. Pubmed reference: 15776945. DOI: 10.2460/javma.2005.226.734.|
- Created by Imke Tammen2 on 18 Dec 2020
- Changed by Imke Tammen2 on 18 Dec 2020