S667I Summary

SCN5A S667I was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S667I is not present in gnomAD. S667I has been functionally characterized in 0 papers. Other variants at the same resdue are S667C .S667G .S667I .S667N .S667R .S667R .S667R .S667T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S667I 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 0.765

S667I 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
652 14.7
653 14.2
654 13.7 E654K
655 13.2 E655K
656 12.6 P656L
657 12
658 11.4
659 10.7 R659Q R659W
660 10.1
661 9.3 R661W
662 8.5 A662S
663 7.6
664 6.6 S664G
665 5.4 A665S A665T
666 3.8
668 3.8 V668I
669 5.4
670 6.6
671 7.6
672 8.5 A672T
673 9.3
674 10.1
675 10.7
676 11.4
677 12
678 12.6
679 13.2
680 13.7 R680C
681 14.2
682 14.7