Skip to main content

Table 2 Likely pathogenic mutations found in this study and prediction of their pathogenicity

From: Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease

Gene

Exon/Intron

cDNA change

AA change

Known/Novel

Type

SIFT

PolyPhen-2

GVGD

Family history

VS

VS

VS

PKD1

26

c.9380G > Ca

p.Gly3127Ala

Novel

Missense

0.00

0.994

C55

+

PKD1

39

c.11248C > Ga

p.Arg3750Gly

Knownb

Missense

0.00

0.997

C65

-

PKD1

42

c.11541C > Ga

p.Ser3847Arg

Novel

Missense

0.01

0.805

C65

+

PKD1

IVS5

c.1202-9G > A

p.Ala401fs

Knownc

Splice

   

-

  1. Abbreviations: AA amino acid, VS variant score, NA not applicable.
  2. aThe three novel missense variations found in this study were predicted to affect protein function by all three in-silico analyses.
  3. bThis mutation has been reported in two affected patients among four tested family members in one Czech family [27].
  4. cThis mutation has been reported in one family (ATH0012) from unpublished data by Athena Diagnostics and is registered in PKDB and classified as ‘likely pathogenic’ with the amino acid change of p.Ala401fs. Kurashige et al. also reported that this mutation created a new acceptor site seven nucleotides upstream of the original acceptor site, which was confirmed by a minigene splicing assay [17].