4 ms·
The article talks about different papers. The newest paper is about the mechanism of the molecular clock, but the one that found the mutation is "Mutation of th
by wcoenen 6y ago
The article talks about different papers. The newest paper is about the mechanism of the molecular clock, but the one that found the mutation is "Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder" from 2017.
The mutation is described in that last paper as "CRY1 c.1657+3A>C".
I'm a pretty bad night owl, so I'm currently trying to figure out whether my 23andme data can tell me anything about that locus.
update: I think the CRY1 gene location is chromosome 12, position range 106,991,364 - 107,093,872, and I guess the "1657" is an offset from either the start or the end. But I don't seem to have any raw 23andme data (genotyping chip v2) in that range. On the other hand, I do get some SNPs if I search for "CRY1" via their website, so I'm obviously doing something wrong.
- wcoenen 6y agoupdate 2: SNPedia has the mutation listed as Rs184039278. I don't have data about it, but maybe newer versions of the 23andme chip or other genotyping platforms do. https://www.snpedia.com/index.php/Rs184039278 https://www.snpedia.com/index.php/Rs184039278
- herf 6y ago23andme doesn't report missense variants, so it doesn't report this.
- wcoenen 6y agoI'm a little confused by your comment. As far as I understand, a "missense" mutation is a basic one nucleotide change which results in a change of one amino acid for the encoded protein. https://en.wikipedia.org/wiki/Missense_mutation https://en.wikipedia.org/wiki/Missense_mutation 23andme uses a "Illumina Infinium Global Screening Array" to find single nucleotide changes at certain locations, so isn't that exactly the type of thing they are detecting?