N598Y Summary

SCN5A N598Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. N598Y is not present in gnomAD. N598Y has been functionally characterized in 0 papers. Other variants at the same resdue are N598D .N598H .N598I .N598K .N598K .N598S .N598T .N598Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

N598Y 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 0.923

N598Y 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
583 14.7
584 14.2 G584R
585 13.7
586 13.2 A586T
587 12.6
588 12
589 11.4
590 10.7
591 10.1
592 9.3 N592K N592K N592S
593 8.5
594 7.6
595 6.6
596 5.4
597 3.8
599 3.8 G599R G599R
600 5.4
601 6.6
602 7.6
603 8.5
604 9.3 L604V
605 10.1
606 10.7
607 11.4 G607V
608 12 D608N
609 12.6
610 13.2
611 13.7
612 14.2
613 14.7