C906F Summary

SCN5A C906F was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C906F is not present in gnomAD. C906F has been functionally characterized in 0 papers. Other variants at the same resdue are C906F .C906G .C906R .C906S .C906S .C906W .C906Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C906F 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 0.944

C906F has 65 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
349 14.1 D349N
350 10.2
351 13.6 G351S G351V
352 11
360 13.9
363 13.5
853 14.1
854 13.4
856 12.8
857 9.7 G857D
858 12.9 M858L M858L
859 13.6
860 9.7
861 6.2
862 9.3
863 12.1
864 8.4
865 7.1
866 13 S866L
867 13
868 11.2
869 14.5
870 13.7
871 11.7
872 15 D872N
875 14.6
876 12.6
877 10.5
878 14.5 R878C R878H
879 12.4 W879R W879R
880 10.7
881 8
882 12.9
886 13.8 H886P H886Q H886Q
887 12
889 14.9
890 9.9 I890T
891 12.2
893 12.8 R893C R893H
894 12.1
898 14.4
899 11.4
900 10.1
901 9.9 E901K
902 6.3
903 6.1
904 8
905 5.4
907 4.8
908 6.6
909 5.6
910 5.4 S910L
911 7.4
912 8.3 Q912R
913 8.5
914 8.3
915 4.4
916 8.8
917 11.2
918 9.3
919 7.6
920 12.3
921 14.1
922 13.4
923 14.9