V411E Summary

SCN5A V411E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. V411E is not present in gnomAD. V411E has been functionally characterized in 0 papers. Other variants at the same resdue are V411A .V411E .V411G .V411L .V411L .V411M . This residue is located in a Mild_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

V411E 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 0.983

V411E has 70 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
239 14.4 I239V I239V
241 12.8
242 10.1
243 11.2
244 12.2
245 9.2 Q245K
246 6.1
247 8.9 V247L V247L
248 10.9
249 6
250 6.1
251 10.2
252 10.5
253 8.2
254 10.8
255 14.1
256 12.9
257 13.1
403 14
404 10.9
405 10.5
406 9.7 N406K N406K N406S
407 6.5
408 5.7
409 6.5 L409V
410 4
412 4.4
413 5.9 A413T
414 4.8
415 6.4
416 10.6 Y416C
417 11.2
418 10.2
419 13.1
420 14.5
924 12.7 V924I
925 14.1
926 14.4
927 13.6 N927S
928 10.2
929 9.3
930 12.6
931 13.8
932 9.2
933 10.2
935 12
936 10.7
937 14.8
939 13.4
1470 14.7
1642 10.9
1643 11.7
1645 12.4 T1645M
1646 9.3
1647 13.3
1649 12.6
1650 12.7
1768 13 I1768V
1769 13.9
1771 11.1
1772 9.2
1773 12.9
1774 13.2
1775 7
1776 9.9
1777 13.4 V1777M
1778 12.1
1779 9.6 T1779M
1780 12.8
1782 14