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 | | | | - |
- Abbreviations: AA amino acid, VS variant score, NA not applicable.
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aThe three novel missense variations found in this study were predicted to affect protein function by all three in-silico analyses.
-
bThis mutation has been reported in two affected patients among four tested family members in one Czech family [27].
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cThis mutation has been reported in one family (ATH0012) from unpublished data by Athena Diagnostics and is registered in PKDB and classified as ‘likely pathogenic’ with the amino acid change of p.Ala401fs.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].