A1223V Summary

SCN5A A1223V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1223V is not present in gnomAD. A1223V has been functionally characterized in 0 papers. Other variants at the same resdue are A1223D .A1223G .A1223P .A1223S .A1223T .A1223V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A1223V 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 0.898

A1223V has 60 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
387 14.7
1215 13.2 I1215V
1216 11.2
1217 10.9
1218 9 S1218I
1219 6.6
1220 4.9
1221 5.2 A1221V
1222 4.9
1224 3.8
1225 6.7 E1225K
1226 7.4
1227 11
1228 10.2 Y1228C Y1228H
1229 11
1231 14.6 E1231K
1234 14.5
1235 10.4
1236 14.3 K1236R
1238 13.2
1239 9.8 L1239P
1240 14.3 E1240Q
1242 13.2
1243 14.6 D1243N
1246 14.8
1301 12.7
1303 11.5 R1303Q
1304 10.9 T1304M
1305 14.5
1306 12.5 R1306H
1307 10.4
1308 14.3 L1308F
1310 13.5
1665 11.8
1666 12.4
1667 14.3 V1667I
1668 12.3
1669 7.3
1670 11
1671 13.8
1672 8.2 S1672Y
1673 6.6
1674 12.8 F1674V
1675 11.8
1676 8.4 M1676I M1676I M1676I
1677 11.7
1678 14.9 N1678S
1679 14.9
1680 14.5 A1680T
1693 14.2
1694 12.9
1695 12.7
1696 8.3
1697 5.5
1698 9.3 A1698T
1699 11.9
1700 10.1
1701 10.3 M1701I M1701I M1701I
1702 14.2
1704 14.1