E1015Q Summary

SCN5A E1015Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1015Q is not present in gnomAD. E1015Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1015A .E1015D .E1015D .E1015G .E1015K .E1015Q .E1015V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1015Q 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.

SIFT Sift Score PROVEAN Score Polyphen2 Polyphen2 Score eaRate blastPssm pamScore REVEL
NA NA NA NA NA NA NA NA 0.461

E1015Q has 30 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.

ResidueNumber Distance(Å) Variants
1000 14.7 p.Gln1000del
1001 14.2
1002 13.7 P1002S
1003 13.2
1004 12.6 C1004R
1005 12
1006 11.4
1007 10.7
1008 10.1 P1008S
1009 9.3
1010 8.5
1011 7.6 P1011L P1011S
1012 6.6
1013 5.4
1014 3.8 P1014S
1016 3.8 T1016M
1017 5.4
1018 6.6
1019 7.6
1020 8.5
1021 9.3 P1021S
1022 10.1
1023 10.7 R1023C R1023H R1023P
1024 11.4
1025 12
1026 12.6
1027 13.2 R1027Q
1028 13.7
1029 14.2
1030 14.7