P684T Summary

SCN5A P684T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P684T is not present in gnomAD. P684T has been functionally characterized in 0 papers. Other variants at the same resdue are P684A .P684L .P684Q .P684R .P684S .P684T . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

P684T 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 0.732

P684T 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
669 14.7
670 14.2
671 13.7
672 13.2 A672T
673 12.6
674 12
675 11.4
676 10.7
677 10.1
678 9.3
679 8.5
680 7.6 R680C
681 6.6
682 5.4
683 3.8 C683R
685 3.8
686 5.4
687 6.6
688 7.6
689 8.5 R689C R689H
690 9.3
691 10.1 A691S A691T
692 10.7 Q692K
693 11.4 R693C R693H
694 12 Y694C
695 12.6
696 13.2
697 13.7
698 14.2
699 14.7