C1172Y Summary

SCN5A C1172Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1172Y is not present in gnomAD. C1172Y has been functionally characterized in 0 papers. Other variants at the same resdue are C1172F .C1172G .C1172R .C1172S .C1172S .C1172W .C1172Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1172Y 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 0.802

C1172Y 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
1157 14.7
1158 14.2 G1158S
1159 13.7
1160 13.2
1161 12.6
1162 12
1163 11.4
1164 10.7 P1164T
1165 10.1
1166 9.3
1167 8.5
1168 7.6
1169 6.6 T1169I
1170 5.4
1171 3.8
1173 3.8
1174 5.4 R1174W
1175 6.6 R1175H
1176 7.6
1177 8.5 P1177L
1178 9.3
1179 10.1
1180 10.7 A1180V
1181 11.4 V1181A V1181L V1181L
1182 12
1183 12.6
1184 13.2
1185 13.7
1186 14.2 A1186T
1187 14.7 P1187Q