However, if the developmental mutation is in a pathway that is mutated in common diseases, such as cancer, there may be the potential to test available drugs in the context of developmental diseases.
It is unclear whether this mutation is in the 3'UTR or outside the gene since the two annotations we used differed on exactly where exon 15 ends.
But the one thing I knew about my genome going into the event -- that I'm a carrier of a rare kidney disease -- wasn't picked up because the gene harboring that mutation is in a region too complex to be included in this test.
This mutation is in the seven residue amyloid-forming sequence I325VIVATT331 in the highly conserved T domain of Als5p.
The position of this missense mutation is in exon 5 and is the dpol mutant closest to the 5' end of the gene (see Figure 4).
Recall that the dplDG82 nonsense mutation is in exon 58, and according to our hypothesis this exon should be alternatively spliced.
This mutation is in LD with rs3738579, where the heterozygous genotypes of both SNPs are linked as well as homozygosity for the rare and frequent alleles, respectively.
Worth noticing is that the M105I mutation is in a region of αSNAP that does not interact with the SNARE complex [27].
In contrast, overexpression of swe1K328R, whose mutation is in the region involved in interaction with Hsl1 [8] did not produce elongated buds.
Thus either the mutation is in fact a founder mutation for a sub-population of Chinese HSCR or more than one carrier has introduced the mutation into the Chinese population given its relatively young age.
The dose-response curves in Figure 1B (obtained from the peak inward currents elicited by ACh, see the traces in panel A) show that the greater shift in ACh potency is seen when the mutation is in the α subunit.
