A2T Summary

SCN5A A2T was found in 2 papers (see below) with a total of 5 carriers: 1 had BrS1, 0 had LQT3, and 0 had other disease. A2T is present in 3 out of 245592 alleles in gnomAD (minor allele frequency of 0.001222%). A2T has been functionally characterized in 0 papers. Other variants at the same resdue are A2E .A2G .A2P .A2S .A2T .A2V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A2T Reported Clinical Data

A2T Predictions

PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.

A2T has 16 neighbors within 15 ångströms that have been found in individuals.

A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.