Skip to main content

Table 1 Mutations

From: High Resolution Melt analysis for mutation screening in PKD1 and PKD2

DNA change Protein change Intron or exon Fragment Mutation type Clinical significance Reference
PKD1
c.862C>T p.Gln288X Exon 5 5B NONSENSE Definitely pathogenic Novel
c.926_939del14 p.Asp309fs Exon 5 5B FRAMESHIFT Definitely pathogenic Novel
c.2073G>A p.Ala692Thr Exon 10 10 SUBSTITUTION Probably pathogenic Novel
c.3783_3784insC p.Glu1261fs Exon 15 15B FRAMESHIFT Definitely pathogenic Novel
c.5078C>A p.Tyr1693X Exon 15 15E NONSENSE Definitely pathogenic Novel
c.5610C>G p.Asn1870Lys Exon 15 15F SUBSTITUTION Probably pathogenic Novel
c.5923C>T p.Gln1975X Exon 15 15G NONSENSE Definitely pathogenic Novel
c.7008_7013delCCTTCA p.Thr2337_Phe2338del Exon 16 16 DELETION Probably pathogenic Novel
c.7108T>A p.Cys2370Ser Exon 17 17 SUBSTITUTION Probably pathogenic [11]
c.7155_7156insT p.Tyr2386fs Exon 17 17 FRAMESHIFT Definitely pathogenic Novel
c.7298_7300delTGC p.del2433Leu Exon 18 18 DELETION Probably pathogenic [22]
c.7210-5C>G pThr2496fs Intron 18 19 SPLICE Definitely pathogenic Novel
c.8124_8127delGCCC p.Thr2710fs Exon 22 22 FRAMESHIFT Definitely pathogenic Novel
c.9147_9148insG p.Ala3050fs Exon 25 25 FRAMESHIFT Definitely pathogenic Novel
c.9403C>T p.Thr3135Met Exon 27 27 SUBSTITUTION Probably pathogenic Novel
c.9203_9205delGTG p.del3138Val Exon 27 27 DELETION Probably pathogenic [23]
c.9859_9861delCTC p.del3287Leu Exon 29 29 DELETION Probably pathogenic [34]
c.10086C>T p.Gln3363X Exon 31 31 NONSENSE Definitely pathogenic Novel
c.10167+24del19 p.Gln3389fs Intron 31 31 SPLICE Probably pathogenic Novel
c.10932delC p.Arg3646fs Exon 37 37 FRAMESHIFT Definitely pathogenic Novel
c.10945_10952del8 p.3649fs Exon 37 37 FRAMESHIFT Definitely pathogenic Novel
c.11249G>A p.Arg3750Gln Exon 39 39 SUBSTITUTION Probably pathogenic [32]
c.11512C>T p.Gln3838X Exon 41 41 NONSENSE Definitely pathogenic [35]
c.11972delC p.Ala3991fs Exon 43 43 FRAMESHIFT Definitely pathogenic Novel
c.12235+2T>C p.Leu4046fs Exon 44 44 SPLICE Definitely pathogenic [20]
    PKD2    
c.640G>T p.Glu214X Exon 2 2 NONSENSE Definitely pathogenic Novel
c.974G>A p.Arg325Gln Exon 4 4 SUBSTITUTION Probably pathogenic [11]
c.2533C>T p.Arg845X Exon 14 14 NONSENSE Definitely pathogenic [36]
  1. No mutation was detected in more than one individual.