D1058A Summary

SCN5A D1058A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1058A is not present in gnomAD. D1058A has been functionally characterized in 0 papers. Other variants at the same resdue are D1058A .D1058E .D1058E .D1058G .D1058H .D1058N .D1058V .D1058Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1058A 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 0.557

D1058A 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
1043 14.7
1044 14.2
1045 13.7 V1045M
1046 13.2
1047 12.6
1048 12
1049 11.4
1050 10.7 A1050T
1051 10.1
1052 9.3
1053 8.5 E1053K
1054 7.6
1055 6.6
1056 5.4
1057 3.8
1059 3.8
1060 5.4
1061 6.6 E1061D E1061D
1062 7.6
1063 8.5
1064 9.3 p.E1064del
1065 10.1
1066 10.7 S1066G
1067 11.4
1068 12 G1068D
1069 12.6 T1069M
1070 13.2
1071 13.7 E1071K
1072 14.2 p.E1072del
1073 14.7