E1548K Summary

SCN5A E1548K was found in 4 papers (see below) with a total of 4 carriers: 3 had BrS1, 0 had LQT3, and 0 had other disease. E1548K is present in 1 out of 31402 alleles in gnomAD (minor allele frequency of 0.003185%). E1548K has been functionally characterized in 0 papers. Other variants at the same resdue are E1548A .E1548D .E1548D .E1548G .E1548K .E1548Q .E1548V .G1548K . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1548K Reported Clinical Data

E1548K 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.

E1548K has 54 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.