HGMD, Cardiff

Polycystic kidney disease 2

Gene symbol : PKD2

Location : 4q

Supported by SKB, DFG & Pfizer
Number of mutations for this gene = 4 Number of mutations on this page = 3

Nucleotide substitutions - Missense/nonsense
Small lesions - Small insertions
HGMD options - HGMD search HGMD help HGMD home Mutation map cDNA sequence
External links - OMIM entry GDB entry PKD database


Accession
Number
CodonNucleotideAmino acidDisease stateReference
CM961064 380 TGG-TAG Trp-Term Polycystic kidney disease 2 1
CM961065 405 aCAA-TAA Gln-Term Polycystic kidney disease 2 1
CM961066 742 tCGA-TGA Arg-Term Polycystic kidney disease 2 1

Reference

1 - Mochizuki (1996) Science 272, 1339