E49K Summary

SCN5A E49K was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. E49K is present in 1 out of 247076 alleles in gnomAD (minor allele frequency of 0.000405%). E49K has been functionally characterized in 0 papers. Other variants at the same resdue are E49A .E49D .E49D .E49G .E49K .E49Q .E49V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E49K 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
Damaging 0.038 -2.82 probablydamaging 0.983 1.52 0.11 -4 0.544

E49K 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
34 14.7 R34C R34H
35 14.2 G35S
36 13.7
37 13.2 T37A
38 12.6
39 12
40 11.4
41 10.7
42 10.1
43 9.3 R43Q
44 8.5
45 7.6
46 6.6
47 5.4
48 3.8 E48K
50 3.8
51 5.4 A51V
52 6.6 P52S
53 7.6 R53Q
54 8.5
55 9.3
56 10.1
57 10.7
58 11.4
59 12
60 12.6 A60P
61 13.2
62 13.7
63 14.2 K63N K63N
64 14.7