A1102D Summary

SCN5A A1102D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1102D is not present in gnomAD. A1102D has been functionally characterized in 0 papers. Other variants at the same resdue are A1102D .A1102G .A1102P .A1102S .A1102T .A1102V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1102D 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 0.303

A1102D 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
1087 14.7
1088 14.2 A1088T
1089 13.7
1090 13.2 P1090L
1091 12.6
1092 12
1093 11.4
1094 10.7
1095 10.1 W1095C W1095C
1096 9.3
1097 8.5
1098 7.6 V1098L V1098L V1098M
1099 6.6
1100 5.4 A1100V
1101 3.8
1103 3.8 S1103F S1103Y
1104 5.4
1105 6.6
1106 7.6 A1106T
1107 8.5 E1107K
1108 9.3
1109 10.1 S1109G
1110 10.7
1111 11.4
1112 12
1113 12.6 A1113V
1114 13.2 D1114E D1114E D1114N
1115 13.7
1116 14.2 R1116Q R1116W
1117 14.7