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Table 1 Likely pathogenic sequence changes of the PKD1 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 effect

Predicted location within PKD1domains

Reference

394 ISOL.

4

c.450_459del10

p.Glu151ArgfsX135

LRRNT

Novel

338 PKD1

7

c.1564 T > C

p.Cys522Arg

C-type lectin domain

Novel

39 INDET.

15

c.3312_3313dupC

p.Val1105ArgfsX4

PKD repeats

[16]

429 PKD1

15

c.4551_4581del31

p.Tyr1517X

PKD repeats

Novel

236 PKD1

15

c.5650G > T

p.Glu1884X

PKD repeats

Novel

478 INDET.

15

c.5824_5825dupC

p.Arg1942ProfsX47

PKD repeats

[36]

301 PKD1

15

c.5995G > A

p.Gly1999Ser

PKD repeats

[12]

496 ISOL.

315 PKD1

15

c.6130A > G

p.Asn2044Asp

PKD repeats

Novel

249 INDET.

15

c.6586C > T

p.Gln2196X

REJ domain

Novel

427 ISOL.

15

c.6895delG

p.Ala2299ProfsX14

REJ domain

Novel

237 PKD1

16

c.6960_6961insG

p.Ser2321GlufsX98

REJ domain

Novel

253 PKD1

16

c.7000_7001dupGCTGGCG

p.Val2334GlyfsX87

REJ domain

[37]

246 PKD1

17

c.7144_7156del13insTAC

p.Ser2382TyrfsX234

REJ domain

Novel

112 INDET.

18

c.7484G > A

p.Cys2495Tyr

REJ domain

Novel

403 PKD1

20

c.7758_7761del4

p.Trp2587CysfsX31

REJ domain

Novel

357 INDET.

20

c.7856 T > G

p.Leu2619Arg

REJ domain

Novel

438 ISOL.

23

c.8309A > T

p.Asn2770Ile

REJ domain

[36]

336 INDET.

23

c.8311G > A

p.Glu2771Lys

REJ domain

[37]

389 PKD1

275 ISOL.

23

c.8428G > T

p.Glu2810X

REJ domain

[38]

c.8614delA

p.Ile2872SerfsX3

 

[39]

482 INDET.

IVS23

c.8792-2A > T

Probable splice defect

N/A

Novel

479 INDET.

27

c.9416_9417dupACGTGGG

p.Ile3140ArgfsX40

PLAT domain

Novel

430 PKD1

28

c.9584G > A

p.Trp3195X

PLAT domain

Novel

391 PKD1

29

c.9904G > C9906_9907delTG

p.Val3302LeufsX86

TM domain

Novel

395 ISOL.

33

c.10321C > T

p.Gln3441X

Not defined

Novel

413 INDET.

IVS36

c.10821 + 4_10821 + 6delAGG

Probable splice defect

N/A

Novel

330 INDET.

37

c.10951G > A

p.Gly3651Ser

Not defined

[40]

297 PKD1

37

c.10980_10982delAGC

p.Glu3660_Ala3661delinsAsp

Not defined

Novel

385 INDET.

39

c.11172G > A

p.Trp3724X

PKD channel domain

Novel

419 INDET.

39

c.11248C > G

p.Arg3750Gly

PKD channel domain

Novel

379 INDET.

41

c.11482_11484delGAG

p.Glu3828del

PKD channel domain

[40]

420 PKD1

43

c.11884 C > T

p.Gln3962X

PKD channel domain

Novel

161 INDET.

43

c.11993_11994dup9

p.Leu3998_Leu3999insPheLeuLeu

PKD channel domain

Novel

425 INDET.

IVS

43-44

c.12004-15_12015del27

Probable splice defect

N/A

Novel

215 PKD1

44

c.12061 C > T

p.Arg4021X

PKD channel domain

[41]

454 INDET.

45

c.12439_12441delAAG

p.Lys4147del

Not defined

Novel

  1. cDNA numbering is based on the reference database: Autosomal Dominant Polycystic Kidney Disease Mutation Database (PKDB) (http://pkdb.mayo.edu). Novel probable mutations are in boldface type. ISOL. patients with isolated occurrence of ADPKD in a family; PKD1 patients with proved linkage of ADPKD to the PKD1 gene; INDET. indeterminate patients (the linkage of ADPKD to PKD1 gene has not been proved); IVS – the intronic sequence; Novel 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 model of polycystin-1 by UniProtKB/Swiss-Prot database [P98161]. LRRNT – leucine rich repeat N-terminal domain; REJ – receptor for Egg Jelly; PLAT – Polycystin-1, Lipoxygenase, Alpha-Toxin domain; TM – transmembrane domain. As not defined are called sequences within PKD1 protein with unknown domain structure.
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BMC Medical Genetics

ISSN: 1471-2350

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