A1108S Summary

SCN5A A1108S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1108S is not present in gnomAD. A1108S has been functionally characterized in 0 papers. Other variants at the same resdue are A1108D .A1108G .A1108P .A1108S .A1108T .A1108V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1108S 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 0.405

A1108S 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
1093 14.7
1094 14.2
1095 13.7 W1095C W1095C
1096 13.2
1097 12.6
1098 12 V1098L V1098L V1098M
1099 11.4
1100 10.7 A1100V
1101 10.1
1102 9.3 A1102T
1103 8.5 S1103F S1103Y
1104 7.6
1105 6.6
1106 5.4 A1106T
1107 3.8 E1107K
1109 3.8 S1109G
1110 5.4
1111 6.6
1112 7.6
1113 8.5 A1113V
1114 9.3 D1114E D1114E D1114N
1115 10.1
1116 10.7 R1116Q R1116W
1117 11.4
1118 12
1119 12.6
1120 13.2
1121 13.7 A1121V
1122 14.2
1123 14.7