A1221T Summary

SCN5A A1221T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1221T is not present in gnomAD. A1221T has been functionally characterized in 0 papers. Other variants at the same resdue are A1221E .A1221G .A1221P .A1221S .A1221T .A1221V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A1221T 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 0.714

A1221T has 48 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
1213 12.1
1214 11.9
1215 10.8 I1215V
1216 9.6
1217 6.9
1218 5.3 S1218I
1219 5.4
1220 3.3
1222 4.1
1223 5.2
1224 5.3
1225 7.2 E1225K
1226 10.3
1227 13.9
1228 12.6 Y1228C Y1228H
1229 11.1
1234 11.9
1235 8.2
1236 12.5 K1236R
1237 12.2
1238 8.9
1239 6.4 L1239P
1240 11.1 E1240Q
1241 11.8
1242 8.7
1243 11.2 D1243N
1245 12.2 M1245I M1245I M1245I
1246 10.5
1301 13.5
1303 10.1 R1303Q
1304 11.7 T1304M
1305 14.7
1306 10.5 R1306H
1307 10.9
1308 14.9 L1308F
1309 14.3 R1309H
1310 13.4
1665 15
1666 14.9
1669 10.6
1670 13.9
1672 12.8 S1672Y
1673 10.1
1676 12.7 M1676I M1676I M1676I
1677 14.7
1696 13
1697 10.4
1698 14.2 A1698T