E48D Summary

SCN5A E48D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E48D is not present in gnomAD. E48D has been functionally characterized in 0 papers. Other variants at the same resdue are E48A .E48D .E48D .E48G .E48K .E48Q .E48V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E48D 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 0.264

E48D 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
33 14.7
34 14.2 R34C R34H
35 13.7 G35S
36 13.2
37 12.6 T37A
38 12
39 11.4
40 10.7
41 10.1
42 9.3
43 8.5 R43Q
44 7.6
45 6.6
46 5.4
47 3.8
49 3.8
50 5.4
51 6.6 A51V
52 7.6 P52S
53 8.5 R53Q
54 9.3
55 10.1
56 10.7
57 11.4
58 12
59 12.6
60 13.2 A60P
61 13.7
62 14.2
63 14.7 K63N K63N