Y774D Summary

SCN5A Y774D was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. Y774D is present in 1 out of 249258 alleles in gnomAD (minor allele frequency of 0.000401%). Y774D has been functionally characterized in 0 papers. Other variants at the same resdue are Y774C .Y774D .Y774F .Y774H .Y774N .Y774S . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

Y774D 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
Damaging 0 -9.73 probablydamaging 0.979 1.06 -2.71 -11 0.919

Y774D has 15 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
767 14.4
768 10
769 11.6
770 11.8
771 10
772 5.3 D772N
773 4.4
775 5.8
776 9.4
777 7.9
778 8.7
779 12.8 Q779K
782 13
783 13.2
786 14.8