E1385D Summary

SCN5A E1385D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1385D is not present in gnomAD. E1385D has been functionally characterized in 0 papers. Other variants at the same resdue are E1385A .E1385D .E1385D .E1385G .E1385K .E1385Q .E1385V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1385D 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 0.573

E1385D has 24 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
1362 14.6
1363 10
1364 13.4
1365 11.6
1379 12.3
1380 10.8 N1380K N1380K p.N1380del
1381 6
1382 7.5 S1382I
1383 7.2
1384 4.4
1386 5.4
1387 7.5
1388 10.2
1389 10.7
1390 6.9
1391 8.9 G1391R G1391R
1392 13.1
1393 12.9
1394 14.4
1395 13.5
1436 13.3
1437 10.1
1438 13.3
1439 12.5