C1198R Summary

SCN5A C1198R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1198R is not present in gnomAD. C1198R has been functionally characterized in 0 papers. Other variants at the same resdue are C1198F .C1198G .C1198R .C1198S .C1198S .C1198W .C1198Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

C1198R 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 0.923

C1198R 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
1183 14.7
1184 14.2
1185 13.7
1186 13.2 A1186T
1187 12.6 P1187Q
1188 12
1189 11.4
1190 10.7 V1190F
1191 10.1
1192 9.3
1193 8.5 R1193Q R1193W
1194 7.6
1195 6.6 R1195H
1196 5.4
1197 3.8
1199 3.8
1200 5.4
1201 6.6
1202 7.6 V1202M
1203 8.5
1204 9.3
1205 10.1
1206 10.7
1207 11.4
1208 12 E1208K
1209 12.6
1210 13.2 F1210S
1211 13.7
1212 14.2 p.I1212del
1213 14.7