Hannie Kremer spoke about one of her projects: deafness caused by mutations in the LRTOMT gene. In her seminar she discussed three such mutations, but all genetic disorders can have many hundreds of molecular reasons, and we are going to analyze just a few of those.
In the lab the sequence of the Catechol O-methyltransferase 2 protein was analyzed for a 8 patients with severe and moderate hearing problems. Can you predict which patients will be completely deaf and which patients are expected to have still hearing capacity left?
The question is simple. Write an article-like report about these mutations and explain at the molecular level why some patients hear poorly while others are totally deaf?
AFLPL L->R YLSHM S->T YCGYS G->E LPPGG P->A TVERD E->V DLVLL V->A VLADH A->P |
In this table, the bold residue was mutated. The other ones are sitting next to it in the sequence and are given just so that you can uniquely find back which residue was mutated.