Table 2.

Patient genetic information

PKD TypePatient NumberHarris ID/Coriell IDGeneExonMutationMutation CallPreviously DescribedA-GVGD ScoreSIFT ScoreComments
Dominant1OX3502/—PKD11C39YHighly likely pathogenicNoC65APF 0.00Conserved residue in LRR N-flank region
Dominant2OX3503/—PKD115R2051PLikely pathogenicYesC15APF 0.03Not very well conserved site but nonconservative change
Dominant3OX3504/—PKD115E1929XDefinitely pathogenicNoUnnecessaryC-terminal truncation
Recessive4OX3687/GM10287No PKHD1 coding mutations detectedPKHD1 mutations may not have been detected or may be in another locus
Recessive5OX3688/GM12607PKHD13T36MDefinitely pathogenicYesUnnecessaryMost common PKHD1 mutation
52W2736GHighly likely pathogenicYesC65APF 0.00Conserved in orthologs and fibrocystin-L protein
  • ID, identification; A-GVGD, align Grantham variation Grantham deviation; SIFT, sorting intolerant from tolerant; APF, affect protein function; LRR, leucine rich repeats.