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] |