C145F Summary

SCN5A C145F was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C145F is not present in gnomAD. C145F has been functionally characterized in 0 papers. Other variants at the same resdue are C145F .C145G .C145R .C145S .C145S .C145W .C145Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C145F 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 0.943

C145F has 59 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
136 14.9 L136P
137 12.7 I137V
138 10.4
139 10.1
140 9
141 6.5 I141N I141V
142 5.4
143 6.1
144 4.4
146 4.8 V146A V146M
147 7.4
148 5.1
149 7.3
150 9.6
151 10.1
152 13 D152N
153 14.9
157 14.5
160 12.6
161 12.4 E161K
163 14.7
164 10.3
165 14.6
167 14.7
168 12.5
200 13.9
219 13.7 R219C
220 14.3 T220I
221 14.8
222 10.2 R222Q
223 8.1 V223L
224 11.2
225 9.6 R225Q R225W
226 6.9 A226V
227 11 L227P
228 11.8
229 8.9
230 12.8 I230T I230V
231 14.5
232 13.7 V232I
844 13.4
845 14.3
847 11.5
848 9.6 I848F
849 13.1
850 12.4 V850M
851 6.6 F851L F851L F851L
852 9.3
853 13.8
854 11.3
855 8.9
856 12.7
857 14.6 G857D
858 12.5 M858L M858L
859 14.2
884 10.2
885 13.8
887 14.3
888 13.6