D1057V Summary

SCN5A D1057V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1057V is not present in gnomAD. D1057V has been functionally characterized in 0 papers. Other variants at the same resdue are D1057A .D1057E .D1057E .D1057G .D1057H .D1057N .D1057V .D1057Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1057V 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 0.597

D1057V 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
1042 14.7
1043 14.2
1044 13.7
1045 13.2 V1045M
1046 12.6
1047 12
1048 11.4
1049 10.7
1050 10.1 A1050T
1051 9.3
1052 8.5
1053 7.6 E1053K
1054 6.6
1055 5.4
1056 3.8
1058 3.8
1059 5.4
1060 6.6
1061 7.6 E1061D E1061D
1062 8.5
1063 9.3
1064 10.1 p.E1064del
1065 10.7
1066 11.4 S1066G
1067 12
1068 12.6 G1068D
1069 13.2 T1069M
1070 13.7
1071 14.2 E1071K
1072 14.7 p.E1072del