Table 1.

PKD2 somatic mutations in individual kidney and liver cystsa

PatientCystMutationbLocationPredicted Effectc
aIns, insertion; del, deletion; LOH, loss of heterozygosity; A, adenosine; C, cytidine; G, guanosine; T, thymidine; I, isoleucine; X, stop codon.
bNucleotide numbering starts with the first in-frame ATG codon of the mRNA sequence of PKD2.
cCodon numbering starts with the first in-frame methionine of polycystin 2.
UT1270 from TOR-PKD31 (germ-line mutation: IVS5 + 1G → A; aberrant splicing of exon 5)
right kidneyC51365del13Exon 6Frameshift 455 → 456X
C81434del3Exon 6del479I
C9LOHLoss of wild-type allele
C111450delAExon 6Frameshift 484 → 513X
C141220del34Exon 5Frameshift 407 → 440X
left kidneyC23LOHLoss of wild-type allele
C26LOHLoss of wild-type allele
C30LOHLoss of wild-type allele
JHU496 from NFL-PKD16 (germ-line mutation: C1390T; R464X in exon 6)
kidneyC11510del27Exon 6del a.a.504-512
C31505InsTExon 6Frameshift 502 → 525X
C8LOHLoss of wild-type allele
UT1500 from TOR-PKD8 (germ-line mutation: 2152InsA; frameshift 720 → 724X in exon 11)
liverC7IVS2-8del19Exon 3Aberrant splicing of exon 3