D1423E Summary

SCN5A D1423E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1423E is not present in gnomAD. D1423E has been functionally characterized in 0 papers. Other variants at the same resdue are D1423A .D1423E .D1423E .D1423G .D1423H .D1423N .D1423V .D1423Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1423E 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 0.63

D1423E has 62 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
373 13.6
375 14.5
376 14.6 R376H
877 13.3
878 7.4 R878C R878H
879 9.4 W879R W879R
886 14.9 H886P H886Q H886Q
889 13.4
890 14.9 I890T
893 11.2 R893C R893H
898 11.8
901 11.5 E901K
902 14.7
1356 13.9
1359 14.8
1360 10.3
1361 13.9
1362 11.1
1364 14.7
1378 14.1 V1378M
1380 14.2 N1380K N1380K p.N1380del
1397 14
1398 9.4 V1398M
1399 11.2
1400 8.7
1401 12.2
1402 13.1
1408 14.8 G1408R G1408R
1410 14.8
1411 11.2
1412 13.6
1413 14.6
1414 10.3
1415 10.6
1416 14.2
1417 13.7
1418 12.3
1419 10.1
1420 5.1 G1420R G1420V
1421 7.6
1422 5.3
1424 5.2
1425 7.3
1426 6.4
1427 7.2
1428 9.5 A1428S A1428V
1429 10.8
1430 10.7 D1430N
1431 12.8
1438 13.7
1440 12.3
1444 15
1450 12.2
1686 12.6
1711 15
1712 12.5 G1712S
1713 14.7
1714 9.1
1715 11.4
1716 15
1717 14
1718 12.5