E418K Summary

SCN5A E418K was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. E418K is present in 1 out of 249156 alleles in gnomAD (minor allele frequency of 0.000401%). E418K has been functionally characterized in 0 papers. Other variants at the same resdue are E418A .E418D .E418D .E418G .E418K .E418Q .E418V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E418K 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 0.001 -3.89 probablydamaging 0.982 0.1327 3.05 -4 0.869

E418K 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
237 13
238 10.6
239 12.3 I239V I239V
240 13.2 V240M
241 9.5
242 8.5
243 12.4
244 11.6
245 7.8 Q245K
246 10
247 13.6 V247L V247L
248 12.6
249 9
250 14.1
409 14.3 L409V
410 11.9
411 10.2 V411M
412 10.1
413 8.7 A413T
414 6.3
415 4.7
416 7.9 Y416C
417 6.1
419 5.4
420 7.5
421 6.8
422 6.6
423 9.5
933 12.7
936 12.1
937 14.3
939 14.2
940 12.5
1775 12.7
1776 11.8
1777 14.7 V1777M
1778 14.2
1779 10.3 T1779M
1780 10.1
1782 12.7
1783 11.3