S671C Summary

SCN5A S671C was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. S671C is present in 1 out of 249036 alleles in gnomAD (minor allele frequency of 0.000402%). S671C has been functionally characterized in 0 papers. Other variants at the same resdue are S671C .S671G .S671I .S671N .S671R .S671R .S671R .S671T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S671C 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
Damaging 0 -4.27 probablydamaging 0.973 1.576 -2.79 -3 0.827

S671C 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
656 14.7 P656L
657 14.2
658 13.7
659 13.2 R659Q R659W
660 12.6
661 12 R661W
662 11.4 A662S
663 10.7
664 10.1 S664G
665 9.3 A665S A665T
666 8.5
667 7.6
668 6.6 V668I
669 5.4
670 3.8
672 3.8 A672T
673 5.4
674 6.6
675 7.6
676 8.5
677 9.3
678 10.1
679 10.7
680 11.4 R680C
681 12
682 12.6
683 13.2 C683R
684 13.7
685 14.2
686 14.7