Table IVC.

Classification of newly described likely polymorphic changes: Deletion

DesignationOrthologs ConservationkProtein Domain ConservationcSegregation AnalysiseOther DescriptionfOther VariantgVariant Scoreh
PKD1
    2894delANSNCN/PNNovelB−23
  • a Score of chemical difference between the normal and mutated residue (high score, greater difference).

  • b Score of chemical difference between orthologs (human, mouse [m], rat [r], dog [d], chicken [c], frog [fr], and fish [fi]; 0 = completely conserved). Species that match the substitution are shown.

  • c Domain containing residue: LRR, WSC, PKD, REJ, PLAT; N/P, no domain predicted; C, conserved (80 to 50%); NC, not conserved (<50%); indicates whether variant residue matches domain sequence (residue #X).

  • d Predicted splicing changes; N/P, none predicted; SSA, slightly strengthens acceptor; ND, normal donor; 0.1 to 1, weakly to strongly predicted.

  • e Segregation demonstrated in: S, sibs #; F, family # (at least two generations); N/A, samples not available.

  • f Recurrent within study (#X) or previously described as mutation (#X, ref); substitution of same residue.

  • g Other variant (mutation score, A, B or C; indeterminate variants, I; or no variant, N); see Table I or V for details.

  • h Composite variant score: ≤−5 = neutral polymorphism.

  • i Aberrant splicing demonstrated by RT-PCR; N/A, not available; N, no.

  • j Details of a previous description as a mutation or a variant of the same residue in HGMD and/or PKDB.