Supp. Table S7. Phenotype of known amino acid substitutions in eight long QT syndrome (LQT) genes and their paralogues.

For each LQT protein residue the residue number, reference allele and protein domain are shown, followed by details of known variation at that residue. Known variants are classified as “LQT” (causing LQT, short QT or Brugada syndrome), “Other Disease Phenotype”, “Benign”, “Probably Benign”, or “Conflict” (where sources disagree) - full details of this classification are described in the paper. “None” indicates that no variants have been reported at this position. Pubmed identifiers are given in brackets for primary references, together with dbSNP identifiers where available.

Where a disease-causing variant in a paralogue maps to a LQT residue, the paralogue gene and transcript ID are given, followed by details of the disease, variant and Pubmed identifiers for primary references. The consensus score (0-9) indicates the strength of agreement of different multiple-sequence alignment algorithms at that residue – a high score suggests confidence in the alignment at that position. Alignments (generated using M-Coffee) are available as supplementary files, accessible via the hyperlinks below.

This data can be accessed interactively and in more detail at http://cardiodb.org/Paralogue_Annotation.