OCA2 common variant NM_000275.3:c.574-19A>G affects splicing and is pathogenic.
Modibo Diallo, Alicia Defay-Stinat, Claudio Plaisant, Sabine Derrien, Elina Mercier, Sophie Javerzat, Shahram Mesdaghi, Daniel J Rigden, Eulalie Lasseaux, Vincent Michaud, Benoit Arveiler · 2026
Read OCA2 common variant NM_000275.3:c.574-19A>G affects splicing and is pathogenic. by Modibo Diallo, Alicia Defay-Stinat, Claudio Plaisant, Sabine Derrien, Elina Mercier, Sophie Javerzat, Shahram Mesdaghi, Daniel J Rigden, Eulalie Lasseaux, Vincent Michaud, Benoit Arveiler (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13311137.txt.
Description
Modibo Diallo and colleagues prove a common gene variant harms pigment making in albinism in a 2026 study. Albinism stems from faults in melanin building genes, and most known faults are rare and sit in coding parts. A patient carried one rare coding fault plus a common intron variant in the OCA2 gene, whose role was doubted.
Blood RNA tests showed the intron variant made the gene skip two blocks, dropping 78 building units from the protein. Modeling showed the loss breaks a key fold and strips sugar tags, which likely traps the protein. The variant was classed as likely harmful. Common intron variants deserve functional tests.
Catalog record
| CREATOR | Modibo Diallo, Alicia Defay-Stinat, Claudio Plaisant, Sabine Derrien, Elina Mercier, Sophie Javerzat, Shahram Mesdaghi, Daniel J Rigden, Eulalie Lasseaux, Vincent Michaud, Benoit Arveiler |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 20607 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |