P685R Summary

SCN5A P685R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P685R is not present in gnomAD. P685R has been functionally characterized in 0 papers. Other variants at the same resdue are P685A .P685L .P685Q .P685R .P685S .P685T . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

P685R 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 0.739

P685R 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
670 14.7
671 14.2
672 13.7 A672T
673 13.2
674 12.6
675 12
676 11.4
677 10.7
678 10.1
679 9.3
680 8.5 R680C
681 7.6
682 6.6
683 5.4 C683R
684 3.8
686 3.8
687 5.4
688 6.6
689 7.6 R689C R689H
690 8.5
691 9.3 A691S A691T
692 10.1 Q692K
693 10.7 R693C R693H
694 11.4 Y694C
695 12
696 12.6
697 13.2
698 13.7
699 14.2
700 14.7