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Table 3 PKD1 mutations in Thai families identified by our group

From: Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)

Family Mutation Location RNA Splicing Defect (experimentally determined) Effect on Polycystin-1 (theoretically deduced) Reference
PK015a IVS13-2A>T IVS13 Del the first 74 nt of exon 14 FS at 1055 (PKD IV-terminal deletion) Thongnoppakhun et al., 2000 [19]
PK039a c.5225_5226delAG (g.29124_29125delAG) Exon 15 - FS at 1672 (PKD XI – terminal deletion) This study, Watnick et al., 1999[24], Rossetti et al., 2002 [15]
PK031a,b Q1828X (c.5693C>T) Exon 15 - Stop at 1828 (PKD XIII-terminal deletion) This study, Rossetti et al., 2002 [15]
PK066b g.33184_33214del31 (31bpE19I19-2 to E19I19+29 or c.7913_7914+29del31) Ex19-IVS19 Exon 19 skipping FS at 2498 (REJ module-terminal deletion) This study (Novel)
PK069a c.9451_9452delAT (g.39376_39377delAT) Exon 26 - FS at 3082 (TM 1-terminal deletion) This study (Novel)
PK002a L3287del (c.10070_10072delCTC or g.41669_41671delCTC) Exon 29 - Inframe deletion of L3287 (TM 2) This study (Novel)
PK009a IVS43+14del20 IVS43 Exon 43 skipping Inframe deletion of 3904–4001 (TM 7–9) Rungroj et al., 2001 [20]
  1. a Segregation of mutation with disease phenotype b De novo mutation is likely. Reference sequences for DNA and mRNA of PKD1 are GenBank Accession No. L39891 and L33243, respectively.