E1318G Summary

SCN5A E1318G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1318G is not present in gnomAD. E1318G has been functionally characterized in 0 papers. Other variants at the same resdue are E1318A .E1318D .E1318D .E1318G .E1318K .E1318Q .E1318V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1318G 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 0.943

E1318G has 32 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
1312 12.7
1313 11.6
1314 10.3
1315 9.6
1316 9.1 R1316Q
1317 4.9 F1317C
1319 4.4 G1319V
1320 7.7 M1320I M1320I M1320I
1321 5.5
1322 8.4
1323 10.4
1324 11.6
1325 12.1 N1325S
1326 14.6
1476 13 Q1476R
1477 13.1
1479 15
1480 10.1
1481 13.5
1652 14.5
1653 13.5
1654 13.7
1655 9.2
1656 9.5
1657 13.3
1658 12.2
1659 8.6
1660 13.1 I1660V
1661 14.5 G1661R G1661R
1662 12.3
1663 14.5
1770 14.4