E44D Summary

SCN5A E44D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E44D is not present in gnomAD. E44D has been functionally characterized in 0 papers. Other variants at the same resdue are E44A .E44D .E44D .E44G .E44K .E44Q .E44V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E44D 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 0.289

E44D has 30 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
29 14.7 A29V
30 14.2
31 13.7
32 13.2
33 12.6
34 12 R34C R34H
35 11.4 G35S
36 10.7
37 10.1 T37A
38 9.3
39 8.5
40 7.6
41 6.6
42 5.4
43 3.8 R43Q
45 3.8
46 5.4
47 6.6
48 7.6 E48K
49 8.5
50 9.3
51 10.1 A51V
52 10.7 P52S
53 11.4 R53Q
54 12
55 12.6
56 13.2
57 13.7
58 14.2
59 14.7