S602T Summary

SCN5A S602T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S602T is not present in gnomAD. S602T has been functionally characterized in 0 papers. Other variants at the same resdue are S602A .S602L .S602P .S602T . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

S602T 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 0.635

S602T 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
587 14.7
588 14.2
589 13.7
590 13.2
591 12.6
592 12 N592K N592K N592S
593 11.4
594 10.7
595 10.1
596 9.3
597 8.5
598 7.6
599 6.6 G599R G599R
600 5.4
601 3.8
603 3.8
604 5.4 L604V
605 6.6
606 7.6
607 8.5 G607V
608 9.3 D608N
609 10.1
610 10.7
611 11.4
612 12
613 12.6
614 13.2
615 13.7 G615E
616 14.2
617 14.7