C139F Summary

SCN5A C139F was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C139F is not present in gnomAD. C139F has been functionally characterized in 0 papers. Other variants at the same resdue are C139F .C139G .C139R .C139S .C139S .C139W .C139Y .p.I137_C139dup . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C139F 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 0.604

C139F has 36 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
130 13.9
131 11.7
132 9.7
133 10.3
134 9.4
135 6.6
136 5.4 L136P
137 6.3 I137V
138 5.3
140 4.8
141 6.4 I141N I141V
142 5.3
143 6.4
144 9.8
145 10.1
146 10.9 V146A V146M
147 13.1
148 14.2
160 14.1
163 13.3
164 10.4
165 14.8
166 14.7 A166T
167 10.8
168 11.2
170 15
171 12.6
225 11.4 R225Q R225W
226 11.9 A226V
227 14.9 L227P
228 11.6
229 10
230 14.2 I230T I230V
231 12.4
232 10.4 V232I
233 14.4