D1430E Summary

SCN5A D1430E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1430E is not present in gnomAD. D1430E has been functionally characterized in 0 papers. Other variants at the same resdue are D1430A .D1430E .D1430E .D1430G .D1430H .D1430N .D1430V .D1430Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1430E 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 0.927

D1430E has 61 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
877 14.5
878 10.3 R878C R878H
879 12.2 W879R W879R
880 15
886 13.4 H886P H886Q H886Q
889 14.6
1352 14.9
1355 12.3
1356 10.1
1357 13.4 A1357V
1358 12
1359 8.4
1360 7.8
1361 8.8
1362 7.2
1363 11.9
1364 12.9
1379 14.8
1380 10.3 N1380K N1380K p.N1380del
1381 14.1
1382 11.5 S1382I
1383 12.2
1386 12.4
1387 12
1388 14.1
1395 13.1
1396 13.5
1397 13.4
1398 11.1 V1398M
1400 13.5
1401 13.6
1402 13
1420 14.9 G1420R G1420V
1421 14.9
1422 12.5
1423 10.7
1424 10.3
1425 9.3
1426 5.2
1427 4.5
1428 5.4 A1428S A1428V
1429 4.6
1431 4.1
1432 7.8 R1432S R1432S
1433 8.9 G1433W
1434 12.1
1435 14.2
1436 10.9
1437 8.1
1438 4.7
1439 5.9
1440 7.1
1441 8.8
1442 7.7
1443 7.7 N1443S
1444 9.4
1445 11.9 Y1445H
1446 11
1447 13
1449 14.2 Y1449C
1450 13.2