C1136Y Summary

SCN5A C1136Y was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1136Y is present in 1 out of 238054 alleles in gnomAD (minor allele frequency of 0.00042%). C1136Y has been functionally characterized in 0 papers. Other variants at the same resdue are C1136F .C1136G .C1136R .C1136S .C1136S .C1136W .C1136Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1136Y 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
Tolerated 0.66 -0.42 benign 0 1 0.46 -4 0.212

C1136Y 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
1121 14.7 A1121V
1122 14.2
1123 13.7
1124 13.2
1125 12.6 A1125G A1125V
1126 12
1127 11.4
1128 10.7
1129 10.1 G1129S
1130 9.3
1131 8.5 T1131I
1132 7.6
1133 6.6
1134 5.4
1135 3.8 S1135I
1137 3.8
1138 5.4
1139 6.6
1140 7.6
1141 8.5
1142 9.3
1143 10.1
1144 10.7
1145 11.4
1146 12
1147 12.6 T1147N T1147S T1147S
1148 13.2 A1148T
1149 13.7
1150 14.2
1151 14.7