S556C Summary

SCN5A S556C was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S556C is not present in gnomAD. S556C has been functionally characterized in 0 papers. Other variants at the same resdue are S556C .S556G .S556I .S556N .S556R .S556R .S556R .S556T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S556C 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 0.718

S556C 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
541 14.7
542 14.2
543 13.7
544 13.2
545 12.6
546 12
547 11.4
548 10.7
549 10.1
550 9.3
551 8.5 A551T A551V
552 7.6 G552R G552R G552W
553 6.6
554 5.4
555 3.8 E555K
557 3.8 H557Y
558 5.4 H558R
559 6.6 T559I
560 7.6
561 8.5
562 9.3
563 10.1
564 10.7
565 11.4
566 12
567 12.6 L567Q
568 13.2 R568C R568H
569 13.7 R569Q R569W
570 14.2 T570N
571 14.7 S571I