K682R Summary

SCN5A K682R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. K682R is not present in gnomAD. K682R has been functionally characterized in 0 papers. Other variants at the same resdue are K682E .K682M .K682N .K682N .K682Q .K682R .K682T . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

K682R 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 0.509

K682R 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
667 14.7
668 14.2 V668I
669 13.7
670 13.2
671 12.6
672 12 A672T
673 11.4
674 10.7
675 10.1
676 9.3
677 8.5
678 7.6
679 6.6
680 5.4 R680C
681 3.8
683 3.8 C683R
684 5.4
685 6.6
686 7.6
687 8.5
688 9.3
689 10.1 R689C R689H
690 10.7
691 11.4 A691S A691T
692 12 Q692K
693 12.6 R693C R693H
694 13.2 Y694C
695 13.7
696 14.2
697 14.7