E1441A Summary

SCN5A E1441A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1441A is not present in gnomAD. E1441A has been functionally characterized in 0 papers. Other variants at the same resdue are E1441A .E1441D .E1441D .E1441G .E1441K .E1441Q .E1441V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1441A 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 0.95

E1441A has 41 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
152 13.4 D152N
153 14.8
865 14.8
874 14.9 G874D
875 11.8
876 9.7
877 11
878 11 R878C R878H
879 11.6 W879R W879R
880 9.8
881 14.9
882 11.1
883 10.1
884 14.8
885 11.5
886 9.3 H886P H886Q H886Q
887 14.5
889 13.7
1362 14.4
1380 13.9 N1380K N1380K p.N1380del
1382 11.6 S1382I
1383 11
1387 14.4
1425 13.6
1426 9.8
1427 12.5
1428 12.5 A1428S A1428V
1429 9
1430 8.8 D1430N
1431 11.7
1432 11.1 R1432S R1432S
1437 12.9
1438 11.1
1439 7.2
1440 4.3
1442 5.4
1443 8.9 N1443S
1444 7.7
1445 11.8 Y1445H
1446 13.6
1447 13.3