Polycystic kidney disease 1
Gene symbol : PKD1
Location : 16p13
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Polycystic kidney disease 1
Gene symbol : PKD1
Location : 16p13 |
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| Number of mutations for this gene = 33 | Number of mutations on this page = 22 |
| Nucleotide substitutions - | Missense/nonsense | Splicing | |||
| Small lesions - | Small deletions | Small insertions | |||
| HGMD options - | HGMD search | HGMD help | HGMD home | Mutation map | cDNA sequence |
| External links - | OMIM entry | GDB entry | PKD database |
| Accession Number | Codon | Nucleotide | Amino acid | Disease state | Reference |
| CM970891 | 2760 | ATG-ACG | Met-Thr | Polycystic kidney disease 1, association with | 1 |
| CM970892 | 2761 | CGC-CCC | Arg-Pro | Polycystic kidney disease 1, association with | 1 |
| CM970893 | 2763 | cCTC-GTC | Leu-Val | Polycystic kidney disease 1 | 1 |
| CM970894 | 2764 | ATG-ACG | Met-Thr | Polycystic kidney disease 1, association with | 1 |
| CM970895 | 2791 | CGG-CAG | Arg-Gln | Polycystic kidney disease 1 | 1 |
| CM970896 | 2826 | ATC-ACC | Ile-Thr | Polycystic kidney disease 1 | 1 |
| CM970897 | 2993 | CTG-CCG | Leu-Pro | Polycystic kidney disease 1 | 2 |
| CM970898 | 3008 | cGTG-CTG | Val-Leu | Polycystic kidney disease 1 | 1 |
| CM970899 | 3016 | CAG-CGG | Gln-Arg | Polycystic kidney disease 1 | 2 |
| CM970900 | 3020 | cGAG-TAG | Glu-Term | Polycystic kidney disease 1 | 2 |
| CM970901 | 3064 | cTTT-CTT | Phe-Leu | Polycystic kidney disease 1 | 1 |
| CM970902 | 3510 | gCTG-GTG | Leu-Val | Polycystic kidney disease 1 | 2 |
| CM970903 | 3513 | gCAG-TAG | Gln-Term | Polycystic kidney disease 1 | 2 |
| CM961058 | 3631 | GAGa-GAC | Glu-Asp | Polycystic kidney disease 1 | 3 |
| CM970904 | 3677 | ATG-ACG | Met-Thr | Polycystic kidney disease 1 | 4 |
| CM961059 | 3818 | TACg-TAA | Tyr-Term | Polycystic kidney disease 1 | 5 |
| CM961060 | 3837 | gCAG-TAG | Gln-Term | Polycystic kidney disease 1 | 3 |
| CM961061 | 4020 | cCGA-TGA | Arg-Term | Polycystic kidney disease 1 | 6 |
| CM950947 | 4041 | cCAG-TAG | Gln-Term | Polycystic kidney disease 1 | 7 |
| CM961062 | 4086 | TGTg-TGA | Cys-Term | Polycystic kidney disease 1 | 8 |
| CM970905 | 4126 | TACg-TAG | Tyr-Term | Polycystic kidney disease 1 | 4 |
| CM961063 | 4227 | cCGA-TGA | Arg-Term | Polycystic kidney disease 1 | 3 |
References
1 - Watnick (1997) Hum Mol Genet 6, 1473
2 - Peral (1997) Am J Hum Genet 60, 1399
3 - Peral (1996) Am J Hum Genet 58, 86
4 - Turco (1997) Hum Mutat 10, 164
5 - Peral (1996) Hum Mol Genet 5, 539
6 - Rossetti (1996) Am J Med Genet 65, 155
7 - Turco (1995) Hum Mol Genet 4, 1331
8 - Neophytou (1996) Hum Genet 98, 437
