A1106V Summary

SCN5A A1106V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1106V is not present in gnomAD. A1106V has been functionally characterized in 0 papers. Other variants at the same resdue are A1106D .A1106G .A1106P .A1106S .A1106T .A1106V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1106V 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 0.535

A1106V 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
1091 14.7
1092 14.2
1093 13.7
1094 13.2
1095 12.6 W1095C W1095C
1096 12
1097 11.4
1098 10.7 V1098L V1098L V1098M
1099 10.1
1100 9.3 A1100V
1101 8.5
1102 7.6 A1102T
1103 6.6 S1103F S1103Y
1104 5.4
1105 3.8
1107 3.8 E1107K
1108 5.4
1109 6.6 S1109G
1110 7.6
1111 8.5
1112 9.3
1113 10.1 A1113V
1114 10.7 D1114E D1114E D1114N
1115 11.4
1116 12 R1116Q R1116W
1117 12.6
1118 13.2
1119 13.7
1120 14.2
1121 14.7 A1121V