Table V.

Details of molecular analysis of mutation negative cases

CRISP IDaNbGene LinkagecDeletion AnalysisdIndeterminate Variants or Novel PolymorphismsVariant Group
DesignationeSplicing PredictionfSegregation AnalysisgOther Description
1000022NCNVDV2897IN/PNNovelP
1000062PKD2N/A9795C→TN/PNNovelP
1000095PKD1NA;HEMN/D
1032271N/PN/AV609GN/PN/ANovelI
N970KN/PN/ANovelI
1186411N/PN/AV690GN/PN/ANovel (V690D)hI
R1340WN/PN/A1XhI
1579251N/PNVD10251G→TN/PN/ANovelP
1609281N/PNVD3006G→CN/PN/ANovelP
1880861N/PN/AN/D
2134541N/PN/A3930C→TN/PN/ANovelP
2357521N/PNVDN/D
2441111N/PPVN/D
2520861N/PN/AV466LSWA (0.65→0.60)N/ANovel (V466M)I
IVS35-14C→TSSA (0.95→0.96)N/ANovelI
2599401N/PN/A;HEMN/D
2996631N/PN/AV466MN/PF2Novel (V466L)I
8176C→TSSA (0.57→0.62)NNovelP
3138931N/PNVDN/D
3646641N/PNVDN/D
3699411N/PNVDN/D
4067371N/PNVDS1352NN/PN/ANovelI
IVS6-46AGN/PN/ANovelP
4071321N/PN/AL2696PN/PN/ANovelI
4649231N/PNVDN/D
4769721N/PN/AH1093DN/PN/ANovel (H1093Y)I
4933281N/PPV;HEMN/D
  • a Patient or pedigree number.

  • b Number of patients from family in CRISP study.

  • c NC, linkage analysis not conclusive; N/P, not possible.

  • d FIGE analysis for large deletions; NVD, no variant detected; N/A, samples not available for analysis; PV, possible variant but not conclusively characterized; HEM, apparent homozygosity (hemizygosity) for one or more rare variants suggesting an uncharacterized deletion mutation.

  • e Details of amino acid changes shown in Tables III and IV. N/D, no novel variants detected; PKD2 changes italicized.

  • f Predicted splicing changes; N/P, none predicted; SWA, slightly weakens acceptor; SSA, slightly strengthens acceptor.

  • g N, does not segregate; N/A, samples not available; F#, segregation demonstrated in family (at least two generations).

  • h Previous description of variant as a mutation or change of the same residue, details in HGMD and/or PKDB.