Table 3.

Likely pathogenic sequence changes of the PKD2 gene identified by HRM and direct sequencing in a set of patients from the Czech population

Family	Exon/intron	Nucleotide change	Amino acid change	Predicted location within PKD2 domains	Reference
421 INDET.	6	c.1345_1346insGCAACAG	Gly450AsnfsX22	Polycystin cation channel domain	[42]
467 INDET.	IVS 11	c.2240 + 1G > T	Splice	N/A	[43]

cDNA numbering is based on the reference database: Autosomal Dominant Polycystic Kidney Disease Mutation Database (PKDB) (http://pkdb.mayo.edu). INDET. indeterminate patients (the linkage of ADPKD to PKD1 gene has not been proved); IVS the intronic sequence. The potential location of mutations has been established on the basis of theoretical model of polycystin-2 by UniProtKB/Swiss-Prot database [Q13563].