S484A Summary

SCN5A S484A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S484A is not present in gnomAD. S484A has been functionally characterized in 0 papers. Other variants at the same resdue are S484A .S484L .S484P .S484T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S484A 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 0.356

S484A 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
469 14.7
470 14.2 N470K N470K
471 13.7
472 13.2
473 12.6
474 12 R474K
475 11.4 R475K R475S R475S
476 10.7
477 10.1
478 9.3
479 8.5
480 7.6 K480N K480N
481 6.6 R481Q R481W
482 5.4
483 3.8
485 3.8
486 5.4
487 6.6
488 7.6
489 8.5
490 9.3
491 10.1
492 10.7
493 11.4 R493K
494 12
495 12.6
496 13.2
497 13.7
498 14.2
499 14.7