C726R Summary

SCN5A C726R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C726R is not present in gnomAD. C726R has been functionally characterized in 0 papers. Other variants at the same resdue are C726F .C726G .C726R .C726S .C726S .C726W .C726Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C726R 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 0.957

C726R has 46 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
718 13.4
719 10.3
720 10.1
721 9
722 5.9
723 5.4 I723V
724 6.2 T724I
725 5.2
727 4.9
728 6.4 V728I
729 5.4
730 6.9
731 9.4
732 10.2
733 9.6 F733L F733L F733L
734 12.1
735 14.6 A735E A735T A735V
748 14.7
749 14.2
751 13.4 V751I
752 9.9 G752R G752R
753 11.1
754 13.2
755 9.4
756 5.5
757 10.3
758 10.4
759 7 I759V
760 7.2
761 12.4
762 11.9
763 10 E763K
764 12.8 M764K
767 14.7
785 13.2 D785N
788 13.3
789 14.1 V789I
792 14.7
811 13.9 R811H
814 9.7 R814Q
815 12.1
817 10.4
818 10.8
820 14.3
821 12.3
822 14.7