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Table 2 Sequence variants identified in PKD2

From: Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic

Exon Mutation designation cDNA change Amino acid change Mutation type Significance No. of cases
1 E95X c.283 G > T Glu95X nonsense pathogenic  
1 P150L c.449 C > T Pro150Leu missense likely neutral  
1 A190T c.568 G > A* Ala190Thr missense likely neutral 4
1 305_307dupAGG c.305_307dupAGG Val 103 fs frameshift pathogenic  
1 397del44 c.397del44 Ser133fs frameshift pathogenic  
1 401_410delTGGGCGCGCG c.401_410delTGGGCGCGCG Val134fs frameshift pathogenic  
2 W201X c.602 G > A* Trp201X nonsense pathogenic 2
2 R213X c.637 C > T Arg213X nonsense pathogenic 2
IVS2 IVS2 + 5insA c.709 + 5insA Leu237fs splice likely pathogenic  
IVS2 IVS2-2A > G c.710-2A > G* Leu237fs splice pathogenic  
4 R322Q c.965 G > A* Arg322Gln missense pathogenic  
4 R361X c.1081 C > T* Arg361X nonsense pathogenic  
IVS4 IVS4 + 1 G > A c.1094 + 1 G > A* Ala365fs splice pathogenic  
5 G390V c.1169 G > T Gly390Val missense pathogenic  
6 F482C c.1445 T > G* Phe482Cys missense likely neutral 2
6 W507X c.1521 G > A Trp507X nonsense pathogenic  
7 1668dupA c.1668dupA Gln557fs frameshift pathogenic  
IVS8 IVS8 + 5 G > C c.1898 + 5 G > C Leu573fs splice pathogenic  
IVS8 IVS8 + 1 G > A c.1898 + 1 G > A* Leu573fs splice pathogenic  
8 Q613X c.1837 C > T Gln613X nonsense pathogenic  
8 C632Y c.1895 G > A Cys632Tyr missense likely pathogenic  
10 2085_2087delAGCinsGG c.2085_2087delAGCinsGG Lys695fs frameshift pathogenic  
11 2163dupC c.2163dupC Val722fs frameshift pathogenic  
11 R730Q c.2189 G > A Arg730Gln missense likely neutral  
11 R742X c.2224 C > T* Arg742X nonsense pathogenic  
13 R807Q (a) c.2420 G > A* Arg807Gln missense indeterminate  
14 R845X c.2533 C > T* Arg845X nonsense pathogenic  
14 L867P (a) c.2600 T > C Leu867Pro missense likely pathogenic  
15 D919N c.2755 G > A Asp919Asn missense likely pathogenic  
1-15 EX1_EX15del    deletion pathogenic  
  1. * = mutations already described in the PKD mutation database (http://www.pkdb.mayo.edu) (a) = both variants found in the same patient.