E1392Q Summary

SCN5A E1392Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1392Q is not present in gnomAD. E1392Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1392A .E1392D .E1392D .E1392G .E1392K .E1392Q .E1392V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1392Q 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

E1392Q 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.

ResidueNumber Distance(Å) Variants
1363 11.1
1364 13
1365 11.5
1366 13.1
1381 14
1385 13.1
1386 12.6
1387 14.9
1388 11.7
1389 7.8
1390 8.5
1391 4.8 G1391R G1391R
1393 4.3
1394 8
1395 10.5
1396 12.9