Functional human variation

Question 1

Explain SNV

Answer 1

Cause by UV, chemicals…

Present in few individuals

Question 2

Explain SNP

Answer 2

Fixated in population (min. 1%)

Question 3

Explain mutation

Answer 3

Implies that it is involved in disease

Question 4

Explain transition/transversion

Answer 4

Transition: Purine –> purine or pyrimidine –> pyrimidine

Transversion: Purine –> pyrimidine or vice versa

Question 5

Explain coding vs. non-coding mutations

Answer 5

Non-coding mutations do not give rise to differences in protein sequence. They can still affect splicing, expression and other functions.

Question 6

Explain chromosomal rearrangements

Answer 6

Insertions or deletions of larger parts of the chromosome.
Deletion and duplication
Inversion
Translocation

Question 7

How can mutations lead to disease?

Answer 7

Loss/gain of function due to stop codon, altered structure, different splicing pattern etc.

Question 8

What is SIFT?

Answer 8

A program that assesses amino acid conservation across species to evaluated if mutations of these are pathogenic.