Reading mutations

Question 1

Arg117His

Answer 1

Replace arginine 117 by histidine

Question 2

Gly542Stop/ G542X

Answer 2

glycine 542 replaced by a stop codon

Question 3

1162G> A

Answer 3

Replace guanine guanine at position 1162 with adenine

Question 4

IVS4 + 1G>T

Answer 4

replace G by T at the 1st base of intron 4

Question 5

What does IVSn specify?

Answer 5

The intron number or the number of the nearest exon position

Question 6

F508del

Answer 6

Delete phenylalanine 508

Question 7

6232-6236del

Answer 7

delete 5 nucleotides starting with 6232

Question 8

409-410 insC

Answer 8

Insert C between nt. 409 and 410

Question 9

E474fsX493

Answer 9

frameshift mutation and a premature stop codon: 474 position of insertion/deletion causing framshift causing a premature stop codon at position 493