S634W Summary

SCN5A S634W was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. S634W is present in 1 out of 245692 alleles in gnomAD (minor allele frequency of 0.000407%). S634W has been functionally characterized in 0 papers. Other variants at the same resdue are S634A .S634L .S634P .S634T .S634W . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S634W 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 0.001 -2.71 probablydamaging 0.994 2.415 1.47 -5 0.559

S634W 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
619 14.7 L619F
620 14.2 R620C R620H
621 13.7
622 13.2
623 12.6
624 12 L624Q
625 11.4 E625D E625D
626 10.7
627 10.1 P627L
628 9.3
629 8.5
630 7.6 T630M
631 6.6
632 5.4 T632M
633 3.8
635 3.8
636 5.4
637 6.6
638 7.6
639 8.5 G639R G639R
640 9.3 P640A
641 10.1
642 10.7
643 11.4
644 12
645 12.6
646 13.2
647 13.7 A647D A647S A647V
648 14.2 P648L
649 14.7 C649Y