E540V Summary

SCN5A E540V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E540V is not present in gnomAD. E540V has been functionally characterized in 0 papers. Other variants at the same resdue are E540A .E540D .E540D .E540G .E540K .E540Q .E540V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E540V 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 0.792

E540V 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
525 14.7
526 14.2 R526C R526H
527 13.7 G527R G527R
528 13.2 S528R S528R S528R
529 12.6
530 12 F530V
531 11.4 T531A
532 10.7 F532C F532L F532L F532L
533 10.1 R533C R533H R533S
534 9.3
535 8.5 R535Q
536 7.6 D536H
537 6.6
538 5.4
539 3.8
541 3.8
542 5.4
543 6.6
544 7.6
545 8.5
546 9.3
547 10.1
548 10.7
549 11.4
550 12
551 12.6 A551T A551V
552 13.2 G552R G552R G552W
553 13.7
554 14.2
555 14.7 E555K