A1121P Summary

SCN5A A1121P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1121P is not present in gnomAD. A1121P has been functionally characterized in 0 papers. Other variants at the same resdue are A1121E .A1121G .A1121P .A1121S .A1121T .A1121V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1121P 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 0.448

A1121P 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
1106 14.7 A1106T
1107 14.2 E1107K
1108 13.7
1109 13.2 S1109G
1110 12.6
1111 12
1112 11.4
1113 10.7 A1113V
1114 10.1 D1114E D1114E D1114N
1115 9.3
1116 8.5 R1116Q R1116W
1117 7.6
1118 6.6
1119 5.4
1120 3.8
1122 3.8
1123 5.4
1124 6.6
1125 7.6 A1125G A1125V
1126 8.5
1127 9.3
1128 10.1
1129 10.7 G1129S
1130 11.4
1131 12 T1131I
1132 12.6
1133 13.2
1134 13.7
1135 14.2 S1135I
1136 14.7