S499T Summary

SCN5A S499T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S499T is not present in gnomAD. S499T has been functionally characterized in 0 papers. Other variants at the same resdue are S499A .S499L .S499P .S499T . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S499T 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 0.465

S499T 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
484 14.7
485 14.2
486 13.7
487 13.2
488 12.6
489 12
490 11.4
491 10.7
492 10.1
493 9.3 R493K
494 8.5
495 7.6
496 6.6
497 5.4
498 3.8
500 3.8
501 5.4
502 6.6
503 7.6
504 8.5 R504T
505 9.3
506 10.1 M506K
507 10.7
508 11.4
509 12
510 12.6
511 13.2
512 13.7 T512I
513 14.2 R513C
514 14.7 G514C