IMpact of genetic variants on the DNA → RNA →protein program
From genotype to phenotype and back
Resources
Exercises
- Exercise 1: GREB1L:c.4369−1G>C
- what is cDNA
- what is the meaning
of the annotation
c.4369−1G>C
- what is the effect of this variant on the genetic level (check out on the UCSC)
- what is NMD
- which protein is lost due to this variant
- bonus question: what is the consequence of the loss of that protein on the systemic level
- what is the resulting phenotype?
(see a paper,
OMIM,
in particular see here)
- what is OMIM database
- Exercise 2: EGFR:c.2573T>G
- what is cDNA
- what is the meaning
of the annotation
c.2573T>G
- what is the location of this mutation on the gene? (check out on the UCSC)
- what is the effect of this variant on the protein level
- visualize the effect of this mutation
on the structure
- what is the role of the EGFR protein, and what is the consequence of its activation on
the systemic level
- where does this mutation appear? (see
here [the intro is sufficient] ,
and here )
- what is PDB?
- Exercise 3: NM_152778.3: c.1102G>C
- Mila 1
- Mila 2
- Mila 3
- Mila 4
- what is the effect of this variant on the genetic level - Figs 1 and 2 in the last paper
- what is the
role of the MFSD8 protein
(← this is a Uniprot link)
in a healthy organism, and what is the consequence of its loss on the systemic level
- what is the resulting phenotype?
- what kind of therapy was provided for Mila?
- what is Uniprot?
- Exercise 4: chr13:g.32178877–33860144del
- what is gDNA
- what is the meaning
of the annotation
g.32178877–33860144del
- what is the effect of this mutation? which gene is lost? (use UCSC)
- what is the role of the protein lost?
- what is the
related phenotype
(pls focus on the phenotype, no the entire paper)