S497Y Summary

SCN5A S497Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S497Y is not present in gnomAD. S497Y has been functionally characterized in 0 papers. Other variants at the same resdue are S497A .S497C .S497F .S497P .S497T .S497Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S497Y 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 0.547

S497Y 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
482 14.7
483 14.2
484 13.7
485 13.2
486 12.6
487 12
488 11.4
489 10.7
490 10.1
491 9.3
492 8.5
493 7.6 R493K
494 6.6
495 5.4
496 3.8
498 3.8
499 5.4
500 6.6
501 7.6
502 8.5
503 9.3
504 10.1 R504T
505 10.7
506 11.4 M506K
507 12
508 12.6
509 13.2
510 13.7
511 14.2
512 14.7 T512I