Y776N Summary

SCN5A Y776N was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. Y776N is not present in gnomAD. Y776N has been functionally characterized in 0 papers. Other variants at the same resdue are p.Y776del .Y776C .Y776D .Y776F .Y776H .Y776N .Y776S . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

Y776N 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 0.965

Y776N has 40 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 12.7
711 12.4
713 14.3
714 10.7 V714A
715 14
719 14.6
720 13.5
723 14.7 I723V
760 14.1
761 12.9
762 12.7
763 11.4 E763K
764 7.4 M764K
765 9.5
766 11.3
767 6.4
768 5
769 9.2
770 8.4
771 5.7
772 7.4 D772N
773 5.8
774 9.4 Y774C
775 8.2
777 4.3
778 7.5
779 7.1 Q779K
780 8.6
781 10.7
782 4.2
783 7.1
784 10.9
785 8.5 D785N
786 7.9
787 11.5
788 12.7
789 11.9 V789I
790 13.1
817 13.4
820 13.5