K711N Summary

SCN5A K711N was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. K711N is not present in gnomAD. K711N has been functionally characterized in 0 papers. Other variants at the same resdue are K711E .K711M .K711N .K711N .K711Q .K711R .K711T . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

K711N 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 0.515

K711N has 24 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
710 6
712 4.8
713 7.2
714 6.1 V714A
715 5.3
716 9.7
717 13.3 P717L
718 14.3
719 12
720 13.5
763 13.4 E763K
764 14.2 M764K
765 14
766 11.3
767 9.4
768 11.9
769 10.1
770 5.9
771 6.9
772 10.6 D772N
773 13.6
775 11.5
776 12.4
782 14.5