D1226G Summary

SCN5A D1226G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1226G is not present in gnomAD. D1226G has been functionally characterized in 0 papers. Other variants at the same resdue are D1226A .D1226E .D1226E .D1226G .D1226H .D1226N .D1226V .D1226Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1226G 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 0.979

D1226G has 55 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
1218 14.1 S1218I
1219 12.6
1220 11.7
1221 10.3 A1221V
1222 8.3
1223 7.4
1224 8.3
1225 4.2 E1225K
1227 4.8
1228 7.4 Y1228C Y1228H
1229 6.8
1230 10.3 E1230K
1231 11.2 E1231K
1233 14
1234 14.3
1235 10.1
1236 11.1 K1236R
1237 14.8
1238 14.4
1239 10.3 L1239P
1240 13 E1240Q
1243 14.8 D1243N
1299 14.5
1300 12.5
1301 9.8
1302 14.2
1303 10.9 R1303Q
1304 10.9 T1304M
1306 14.8 R1306H
1307 13.9
1669 12.2
1670 13.7
1671 14.6
1672 9.2 S1672Y
1673 7.6
1674 11.2 F1674V
1675 9
1676 5.1 M1676I M1676I M1676I
1677 6.8
1678 10.3 N1678S
1679 10.5
1680 8.1 A1680T
1681 9.7 Y1681F
1682 13
1693 11.1
1694 9.8
1695 7.8
1696 7
1697 8.7
1698 11.1 A1698T
1699 11.4
1700 10.4
1701 13.3 M1701I M1701I M1701I
1703 14.9
1740 13.6 G1740R G1740R