E1017G Summary

SCN5A E1017G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1017G is not present in gnomAD. E1017G has been functionally characterized in 0 papers. Other variants at the same resdue are E1017A .E1017D .E1017D .E1017G .E1017K .E1017Q .E1017V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1017G 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 0.318

E1017G 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
1002 14.7 P1002S
1003 14.2
1004 13.7 C1004R
1005 13.2
1006 12.6
1007 12
1008 11.4 P1008S
1009 10.7
1010 10.1
1011 9.3 P1011L P1011S
1012 8.5
1013 7.6
1014 6.6 P1014S
1015 5.4
1016 3.8 T1016M
1018 3.8
1019 5.4
1020 6.6
1021 7.6 P1021S
1022 8.5
1023 9.3 R1023C R1023H R1023P
1024 10.1
1025 10.7
1026 11.4
1027 12 R1027Q
1028 12.6
1029 13.2
1030 13.7
1031 14.2
1032 14.7 E1032K