S705F Summary

SCN5A S705F was found in 1 paper (see below) with a total of 14 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S705F is present in 13 out of 280672 alleles in gnomAD (minor allele frequency of 0.004632%). S705F has been functionally characterized in 0 papers. Other variants at the same resdue are S705A .S705C .S705F .S705P .S705T .S705Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S705F Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2012928320101000
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

S705F 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 -3.05 possiblydamaging 0.641 3.002 -1.88 -6 0.53

S705F 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
690 14.7
691 14.2 A691S A691T
692 13.7 Q692K
693 13.2 R693C R693H
694 12.6 Y694C
695 12
696 11.4
697 10.7
698 10.1
699 9.3
700 8.5
701 7.6 P701L
702 6.6
703 5.4
704 3.8
706 3.8
707 5.4
708 6.6
709 7.6
710 8.5
711 9.3
712 10.1
713 10.7
714 11.4 V714A
715 12
716 12.6
717 13.2 P717L
718 13.7
719 14.2
720 14.7