A1110S Summary

SCN5A A1110S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1110S is not present in gnomAD. A1110S has been functionally characterized in 0 papers. Other variants at the same resdue are A1110E .A1110G .A1110P .A1110S .A1110T .A1110V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1110S 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 0.282

A1110S 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
1095 14.7 W1095C W1095C
1096 14.2
1097 13.7
1098 13.2 V1098L V1098L V1098M
1099 12.6
1100 12 A1100V
1101 11.4
1102 10.7 A1102T
1103 10.1 S1103F S1103Y
1104 9.3
1105 8.5
1106 7.6 A1106T
1107 6.6 E1107K
1108 5.4
1109 3.8 S1109G
1111 3.8
1112 5.4
1113 6.6 A1113V
1114 7.6 D1114E D1114E D1114N
1115 8.5
1116 9.3 R1116Q R1116W
1117 10.1
1118 10.7
1119 11.4
1120 12
1121 12.6 A1121V
1122 13.2
1123 13.7
1124 14.2
1125 14.7 A1125G A1125V