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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

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

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]

  1. 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].
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BMC Medical Genetics

ISSN: 1471-2350

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