C1046W Summary

SCN5A C1046W was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1046W is not present in gnomAD. C1046W has been functionally characterized in 0 papers. Other variants at the same resdue are C1046F .C1046G .C1046R .C1046S .C1046S .C1046W .C1046Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1046W 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 0.564

C1046W 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
1031 14.7
1032 14.2 E1032K
1033 13.7 Q1033R
1034 13.2
1035 12.6
1036 12
1037 11.4
1038 10.7
1039 10.1
1040 9.3 G1040R G1040R
1041 8.5 D1041N
1042 7.6
1043 6.6
1044 5.4
1045 3.8 V1045M
1047 3.8
1048 5.4
1049 6.6
1050 7.6 A1050T
1051 8.5
1052 9.3
1053 10.1 E1053K
1054 10.7
1055 11.4
1056 12
1057 12.6
1058 13.2
1059 13.7
1060 14.2
1061 14.7 E1061D E1061D