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Table 1 Likely pathogenic sequence changes identified in the non-duplicated region of the PKD1 gene in Czech patients with ADPKD

From: New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease

Family

Exon/Intron

Nucleotide change

Aminoacid change/

Predicted effect

Reference

HD 53

34

c.10462 C>T

p.Q3488X

Current paper

HD 15

IVS36

c.10821+1G>C

probably splice defect

Current paper

340

37

c.10850 T>C

p.L3617P (Fig. 2)

Current paper

173

38

c.11078 C>T

p.S3693L (Fig. 2)

Current paper

HD 15

38

c.11080 T>C

p.C3694R (Fig. 2)

Current paper

329

39

c.11258 G>A

p.R3753Q

[19]

HD 2

40

c.11340_11345 delTTACGA

p.Y3781_D3782del (Fig. 3a)

Current paper

HD 12

40

c.11345dup8

p.D3782EfsX46 (Fig. 3b)

Current paper

HD 23

41

c.11417 G>A

p.W3806X

Current paper

HD 41

42

c.11623_11645del22

p.A3875PfsX62

Current paper

256

43

c.11752 G>T

p.E3918X (Fig. 1)

Current paper

HD 10

44

c.12031 C>T

p.Q4011X

[29]

323

44

c.12056 T>G

p.L4019X

Current paper

281

44

c.12061 C>T

p.R4021X

[27]

HD 31

44

c.12061 C>T

p.R4021X

[27]

387

44

c.12124 C>T

p.Q4042X

[27]

237

46

c.12648 A>C

p.Q4216H (Fig. 2)

Current paper

HD 38

46

c.12683 G>C

p.R4228P (Fig. 2)

Current paper

HD 1

46

c.12691 C>T

p.Q4231X

Current paper

HD 40

46

c.12724 C>T

p.Q4242X

Current paper

  1. Novel probable mutations in boldface type. HD - patients from dialysis centres in Czech Republic, IVS - the intronic sequence; Current paper - mutation was not described in The Polycystic Kidney Disease Mutation Database (PKDB server) [5] and/or in The Human Gene Mutation Database at the Institute of medical Genetics in Cardiff (HGMD® server) [30].