Nasal Potential Difference in Cystic Fibrosis considering Severe CFTR Mutations

Table 3

CFTR mutations found in the individuals under study. Gene and protein localization. Mutation classification and frequency from the present study are designated. Traditional and HGVS standard nomenclature^a for CFTR mutations are also indicated.

Traditional nomenclature	HGVS nomenclature^b		Localization (CFTR gene)^c	Consequence	Protein localization	Mutation classification	Predicted functional class
	cDNA name	Protein name
F508del	c.1521_1523delCTT	p.Phe508del	Exon 10	Point deletion	NBD1	A	II
G542X	c.1624G>T	p.Gly542X	Exon 11	Nonsense	NBD1	A	I
P205S	c.613C>T	p.Pro205Ser	Exon 6a	Missense	TM3	A	IV
1717-1G>A	c.1585-1G>A	—	IVS11	Splicing	—	A	I
1812-1G>A	c.1680-1G>A	—	IVS12	Splicing	—	A	I
3272-26A>G	c.3140-26A>G	—	IVS17b	Splicing	—	A	V
V562I	c.1684G>A	p.Val562Ile	Exon 12	Missense	NBD1	B	—
D1152H	c.3454G>C	pAsp1152Hist	Exon 21	Missense	NBD2	A	IV
IVS8-5T	—	—	Intron 8	Splicing	—	A	V

A: CF-causing mutation; B: CFTR-RD mutation; C: mutation with no clinical consequence.
^aReference CFTR sequence accession number: NM_000492.3; nucleotide number 1 corresponds to the A of the ATG translation initiation codon; in the reference sequence, it is numbered as 133.
^bAccording to the HVGS guidelines, this mutation should be named 1585–9412 bp A>G.
^cTraditional nomenclature.