OMIA 000042-9031 : Analphalipoproteinaemia in Gallus gallus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ABCA1||ATP-binding cassette, sub-family A (ABC1), member 1||Gallus gallus||Z||NC_052572.1 (55505344..55410930)||ABCA1||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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|
|2||Wisconsin hypoalpha mutant (WHAM)||Analphalipoproteinaemia||ABCA1||missense||Naturally occurring variant||GRCg6a||Z||g.54877918C>T||c.265G>A||p.(E89K)||2002||12364545||Variant coordinates obtained from or confirmed by EBI's Variant Effect Predictor (VEP) tool|
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.
|2002||Attie, A.D., Hamon, Y., Brooks-Wilson, A.R., Gray-Keller, M.P., MacDonald, M.L.E., Rigot, V., Tebon, A., Zhang, L.H., Mulligan, J.D., Singaraja, R.R., Bitgood, J.J., Cook, M.E., Kastelein, J.J.P., Chimini, G., Hayden, M.R. :|
|Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken Journal of Lipid Research 43:1610-1617, 2002. Pubmed reference: 12364545.|
|1998||Fridolfsson, A.K., Cheng, H., Copeland, N.G., Jenkins, N.A., Liu, H.C., Raudsepp, T., Woodage, T., Chowdhary, B., Halverson, J., Ellegren, H. :|
|Evolution of the avian sex chromosomes from an ancestral pair of autosomes. Proc Natl Acad Sci U S A 95:8147-52, 1998. Pubmed reference: 9653155.|
|1992||Poernama, F., Subramanian, R., Cook, M.E., Attie, A.D. :|
|High Density Lipoprotein Deficiency Syndrome in Chickens Is Not Associated with an Increased Susceptibility to Atherosclerosis Arteriosclerosis and Thrombosis 12:601-607, 1992. Pubmed reference: 1576121.|
|1990||Poernama, F., Schreyer, S.A., Bitgood, J.J., Cook, M.E., Attie, A.D. :|
|Spontaneous High Density Lipoprotein Deficiency Syndrome Associated with a Z-Linked Mutation in Chickens Journal of Lipid Research 31:955-963, 1990. Pubmed reference: 2373963.|
|1988||Bitgood, J.J. :|
|Linear relationship of the loci for barring, dermal melanin inhibitor, and recessive white skin on the chicken Z chromosome Poultry Science 67:530–533, 1988.|
|1985||Bitgood, J.J. :|
|Additional linkage relationships within the Z chromosome of the chicken Poultry Science 64:2234–2238, 1985.|
- Created by Frank Nicholas on 15 Nov 2005
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 Sep 2012