D1055A Summary

SCN5A D1055A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1055A is not present in gnomAD. D1055A has been functionally characterized in 0 papers. Other variants at the same resdue are D1055A .D1055E .D1055E .D1055G .D1055H .D1055N .D1055V .D1055Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1055A 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 0.887

D1055A 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
1040 14.7 G1040R G1040R
1041 14.2 D1041N
1042 13.7
1043 13.2
1044 12.6
1045 12 V1045M
1046 11.4
1047 10.7
1048 10.1
1049 9.3
1050 8.5 A1050T
1051 7.6
1052 6.6
1053 5.4 E1053K
1054 3.8
1056 3.8
1057 5.4
1058 6.6
1059 7.6
1060 8.5
1061 9.3 E1061D E1061D
1062 10.1
1063 10.7
1064 11.4 p.E1064del
1065 12
1066 12.6 S1066G
1067 13.2
1068 13.7 G1068D
1069 14.2 T1069M
1070 14.7