In Silico Data
SCN5A Variant I848F Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-3.96 | 1 | 1.69 | 0.961 | 27 | 36 |
Reported Carrier Data
Functional Data
I848F has 64 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
138 | 13 | M138I, |
141 | 11 | I141V, I141N, |
142 | 11 | |
143 | 15 | |
144 | 13 | |
145 | 10 | |
146 | 13 | V146M, V146A, |
148 | 13 | |
149 | 14 | |
193 | 13 | W193R, W193X, |
196 | 14 | |
223 | 10 | V223L, |
224 | 10 | L224F, |
225 | 12 | R225Q, R225W, |
226 | 7 | A226G, A226V, |
227 | 7 | L227P, |
228 | 10 | K228R, |
229 | 6 | |
230 | 6 | I230T, I230M, I230V, |
231 | 11 | c.692_693delCA, |
232 | 11 | V232F, V232I, |
233 | 9 | |
234 | 14 | P234S, |
235 | 14 | c.704-1G>C, G235R, c.703+1G>A, |
236 | 12 | |
239 | 12 | I239V, I239V , |
240 | 11 | V240M, |
243 | 12 | |
838 | 15 | |
839 | 14 | L839P, |
840 | 11 | |
841 | 11 | p.N841TfsX2, N841K, |
842 | 10 | |
843 | 9 | T843A, |
844 | 6 | L844RfsX3, |
845 | 5 | c.2533delG, |
846 | 7 | L846R, |
847 | 4 | |
848 | 0 | I848F, |
849 | 5 | |
850 | 7 | c.2549_2550insTG, V850M, |
851 | 6 | c.2552_2553dupGT, c.2550_2551dupGT, F851L, p.F851CfsX19, |
852 | 6 | |
853 | 9 | |
854 | 10 | c.2559delT, |
855 | 11 | |
856 | 13 | V856L, |
857 | 15 | G857D, |
884 | 13 | |
887 | 14 | |
888 | 11 | |
891 | 12 | I891T, I891N, |
892 | 13 | F892I, |
895 | 13 | L895F, |
921 | 15 | |
922 | 13 | V922I, |
925 | 12 | I925F, |
926 | 11 | |
929 | 14 | |
930 | 11 | c.2788-6C>T, c.2787+17_2787+18insACACACACACACACACACACACA, |
931 | 14 | |
933 | 15 | |
1451 | 15 | V1451D, V1451L, |
1455 | 15 |