Table 2

Sequence changes identified in PKD1 and PKD2. PKD1 cDNA reference sequence is Entrez:NM_000296 (RefSeq database) and PKD2 cDNA reference sequence is Entrez:NM_000297 (RefSeq database).

Sequence change

Location

Amino Acid Change

Predicted effect on protein

Found in family

Reference


c.8509C>T

exon 23 (PKD1)

no change

silent polymorphism

02

present study

c.8522G>A

exon 23 (PKD1)

p.E2771K

missense mutation

25

[18]

c.8675G>A

exon 23 (PKD1)

p.V2822M

probably polymorphism

09

present study

c.11477+128C>T

intron 39 (PKD1)

intronic

polymorphism

19, 25, 39, 43, 46

present study

c.11693_11697dup

exon 41 (PKD1)

frameshift

premature stop codon

41

present study

c.11745+3_5dup

intron 41 (PKD1)

intronic

possibly influences splicing

38

[34]

c.11820_11845del

exon 42 (PKD1)

frameshift

premature stop codon

20

present study

c.12124C>T

exon 43 (PKD1)

no change

silent polymorphism

12, 27

present study

c.12341A>G

exon 44 (PKD1)

p.I4044V

polymorphism

11, 19, 21, 25, 27, 39, 43, 46, 49

[35]

c.12346+22del

intron 44 (PKD1)

intronic

polymorphism

12, 27

[36]

c.12375G>A

exon 45 (PKD1)

p.W4055X

nonsense mutation

50

present study

c.12772dup

exon 46 (PKD1)

frameshift

premature stop codon

11

present study

c.12838T>C

exon 46 (PKD1)

no change

silent polymorphism

11, 19, 21, 25, 27, 39, 43, 46, 49

[37]

c.12973C>T

exon 46 (PKD1)

no change

silent polymorphism

20

[38]

c.83G>C

exon 1 (PKD2)

p.R28P

polymorphism

31

[39]

c.362C>G

exon 1 (PKD2)

p.G121A

probably polymorphism

31

present study

c.844-22 G>A

intron 3 (PKD2)

no change

polymorphism

31

[40]

c.916C>T

exon 4 (PKD2)

p.R306X

nonsense mutation

10

[40]


Vouk et al. BMC Medical Genetics 2006 7:6   doi:10.1186/1471-2350-7-6

Open Data