Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease

BMC Medical Genetics

Table 2 Indeterminate sequence changes of PKD genes identified by HRM and direct sequencing in a set of patients from the Czech population

Family	Gene/exon/intron	Nucleotide change	Amino acid change/predicted effect	Predicted location within PKD domains	Reference
308 ^INDET.	PKD1/15	c.3602C > T	p.Ala1201Val	PKD repeats	Novel
412 ^INDET.	PKD1/29	c.9718G > A	p.Ala3240Thr	Not defined	Novel
409 ^INDET.	PKD1/IVS42	c.11712 + 8C > A	Probable splice defect	N/A	Novel
466 ^INDET.	PKD2/IVS 9	c.2019 + 9A > C	Probable splice defect	N/A	Novel

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; Current paper mutation was not described in the Autosomal Dominant Polycystic Kidney Disease Mutation Database (PKDB) (http://pkdb.mayo.edu) and/or in the Human Gene Mutation Database (HGMD) (http://www.hgmd.cf.ac.uk). The potential location of mutations has been established on the basis of theoretical models of polycystins by UniProtKB/Swiss-Prot database (PKD1: P98161, PKD2:Q13563). As not defined are called sequences within PKD proteins with unknown domain structure.

ISSN: 1471-2350