Y775N Summary

SCN5A Y775N was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. Y775N is not present in gnomAD. Y775N has been functionally characterized in 0 papers. Other variants at the same resdue are Y775C .Y775D .Y775F .Y775H .Y775N .Y775S . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

Y775N 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 0.824

Y775N has 19 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 14.7
711 11.5
714 13.6 V714A
715 14.3
767 12.1
768 10.2
769 11.6
770 9.5
771 6.7
772 4.8 D772N
773 6.4
774 5.8 Y774C
776 8.2
777 8.8
778 6.2
779 9.8 Q779K
780 13.6
782 11.2
783 13.3