N688D Summary

SCN5A N688D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. N688D is not present in gnomAD. N688D has been functionally characterized in 0 papers. Other variants at the same resdue are N688D .N688H .N688I .N688K .N688K .N688S .N688T .N688Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

N688D 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 0.482

N688D 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
673 14.7
674 14.2
675 13.7
676 13.2
677 12.6
678 12
679 11.4
680 10.7 R680C
681 10.1
682 9.3
683 8.5 C683R
684 7.6
685 6.6
686 5.4
687 3.8
689 3.8 R689C R689H
690 5.4
691 6.6 A691S A691T
692 7.6 Q692K
693 8.5 R693C R693H
694 9.3 Y694C
695 10.1
696 10.7
697 11.4
698 12
699 12.6
700 13.2
701 13.7 P701L
702 14.2
703 14.7