H558Q Summary

SCN5A H558Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. H558Q is not present in gnomAD. H558Q has been functionally characterized in 0 papers. Other variants at the same resdue are H558D .H558L .H558N .H558P .H558Q .H558Q .H558R .H558Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

H558Q 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 0.346

H558Q 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
543 14.7
544 14.2
545 13.7
546 13.2
547 12.6
548 12
549 11.4
550 10.7
551 10.1 A551T A551V
552 9.3 G552R G552R G552W
553 8.5
554 7.6
555 6.6 E555K
556 5.4
557 3.8 H557Y
559 3.8 T559I
560 5.4
561 6.6
562 7.6
563 8.5
564 9.3
565 10.1
566 10.7
567 11.4 L567Q
568 12 R568C R568H
569 12.6 R569Q R569W
570 13.2 T570N
571 13.7 S571I
572 14.2 A572D A572F A572S A572V
573 14.7 Q573E