A1125V Summary
SCN5A A1125V was found in 0 papers (see below) with a total of 2 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1125V is present in 2 out of 31380 alleles in gnomAD (minor allele frequency of 0.006373%). A1125V has been functionally characterized in 0 papers. Other variants at the same resdue are A1125D .A1125G .A1125P .A1125S .A1125T .A1125V .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
A1125V 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 |
Tolerated |
0.299 |
-0.47 |
benign |
0.013 |
1 |
0.15 |
-2 |
0.48 |
A1125V 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 |
1110 |
14.7 |
|
1111 |
14.2 |
|
1112 |
13.7 |
|
1113 |
13.2 |
A1113V |
1114 |
12.6 |
D1114E D1114E D1114N |
1115 |
12 |
|
1116 |
11.4 |
R1116Q R1116W |
1117 |
10.7 |
|
1118 |
10.1 |
|
1119 |
9.3 |
|
1120 |
8.5 |
|
1121 |
7.6 |
A1121V |
1122 |
6.6 |
|
1123 |
5.4 |
|
1124 |
3.8 |
|
1126 |
3.8 |
|
1127 |
5.4 |
|
1128 |
6.6 |
|
1129 |
7.6 |
G1129S |
1130 |
8.5 |
|
1131 |
9.3 |
T1131I |
1132 |
10.1 |
|
1133 |
10.7 |
|
1134 |
11.4 |
|
1135 |
12 |
S1135I |
1136 |
12.6 |
|
1137 |
13.2 |
|
1138 |
13.7 |
|
1139 |
14.2 |
|
1140 |
14.7 |
|