S457T Summary

SCN5A S457T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S457T is not present in gnomAD. S457T has been functionally characterized in 0 papers. Other variants at the same resdue are S457A .S457C .S457F .S457P .S457T .S457Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S457T 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 0.559

S457T 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
442 14.7
443 14.2
444 13.7
445 13.2 H445D
446 12.6 E446K
447 12 A447G
448 11.4
449 10.7 T449A
450 10.1
451 9.3
452 8.5
453 7.6 V453M
454 6.6
455 5.4
456 3.8 V456M
458 3.8 R458C R458H
459 5.4
460 6.6
461 7.6 L461V
462 8.5 E462K
463 9.3 M463R
464 10.1
465 10.7
466 11.4 L466F L466F
467 12
468 12.6 P468L
469 13.2
470 13.7 N470K N470K
471 14.2
472 14.7