E547Q Summary

SCN5A E547Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E547Q is not present in gnomAD. E547Q has been functionally characterized in 0 papers. Other variants at the same resdue are E547A .E547D .E547D .E547G .E547K .E547Q .E547V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E547Q 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 0.767

E547Q 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
532 14.7 F532C F532L F532L F532L
533 14.2 R533C R533H R533S
534 13.7
535 13.2 R535Q
536 12.6 D536H
537 12
538 11.4
539 10.7
540 10.1
541 9.3
542 8.5
543 7.6
544 6.6
545 5.4
546 3.8
548 3.8
549 5.4
550 6.6
551 7.6 A551T A551V
552 8.5 G552R G552R G552W
553 9.3
554 10.1
555 10.7 E555K
556 11.4
557 12 H557Y
558 12.6 H558R
559 13.2 T559I
560 13.7
561 14.2
562 14.7