A1052T Summary

SCN5A A1052T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1052T is not present in gnomAD. A1052T has been functionally characterized in 0 papers. Other variants at the same resdue are A1052D .A1052G .A1052P .A1052S .A1052T .A1052V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1052T 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 0.695

A1052T 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
1037 14.7
1038 14.2
1039 13.7
1040 13.2 G1040R G1040R
1041 12.6 D1041N
1042 12
1043 11.4
1044 10.7
1045 10.1 V1045M
1046 9.3
1047 8.5
1048 7.6
1049 6.6
1050 5.4 A1050T
1051 3.8
1053 3.8 E1053K
1054 5.4
1055 6.6
1056 7.6
1057 8.5
1058 9.3
1059 10.1
1060 10.7
1061 11.4 E1061D E1061D
1062 12
1063 12.6
1064 13.2 p.E1064del
1065 13.7
1066 14.2 S1066G
1067 14.7