OMIA 002309-9646 : Cataract, MIP-related in Ailuropoda melanoleuca
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MIP||major intrinsic protein of lens fiber||Ailuropoda melanoleuca||15||NC_048232.1 (33716297..33712762)||MIP||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|
|1287||Cataract||MIP||missense||Naturally occurring variant||c.686G>A||p.(S229N)||2021||33530927|
|2021||Bai, C., You, Y., Liu, X., Xia, M., Wang, W., Jia, T., Pu, T., Lu, Y., Zhang, C., Li, X., Yin, Y., Wang, L., Zhou, J., Niu, L. :|
|A novel missense mutation in the gene encoding major intrinsic protein (MIP) in a giant panda with unilateral cataract formation. BMC Genomics 22:100, 2021. Pubmed reference: 33530927. DOI: 10.1186/s12864-021-07386-8.|
- Created by Imke Tammen2 on 18 Feb 2021
- Changed by Imke Tammen2 on 18 Feb 2021