In Silico Data
SCN5A Variant I230V Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-0.64 | 0.963 | 3.65 | 0.686 | 21 | 2 |
Reported Carrier Data
Functional Data
I230V has 57 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
134 | 14 | N134S, |
135 | 15 | M135V, |
137 | 14 | I137V, |
138 | 10 | M138I, |
139 | 14 | p.I137_C139dup, |
141 | 11 | I141N, I141V, |
142 | 11 | |
145 | 13 | |
191 | 15 | |
192 | 13 | |
193 | 9 | W193R, W193X, |
194 | 14 | |
196 | 12 | |
197 | 13 | |
223 | 13 | V223L, |
224 | 12 | L224F, |
225 | 11 | R225W, R225Q, |
226 | 8 | A226G, A226V, |
227 | 6 | L227P, |
228 | 7 | K228R, |
229 | 5 | |
230 | 0 | I230T, I230V, I230M, |
231 | 5 | c.692_693delCA, |
232 | 7 | V232F, V232I, |
233 | 5 | |
234 | 10 | P234S, |
235 | 10 | G235R, c.704-1G>C, c.703+1G>A, |
236 | 6 | |
237 | 10 | |
238 | 11 | |
239 | 9 | I239V, I239V , |
240 | 7 | V240M, |
241 | 11 | |
242 | 12 | A242D, |
243 | 11 | |
244 | 12 | |
837 | 14 | |
838 | 13 | |
839 | 14 | L839P, |
840 | 11 | |
841 | 9 | p.N841TfsX2, N841K, |
842 | 11 | |
843 | 11 | T843A, |
844 | 8 | L844RfsX3, |
845 | 6 | c.2533delG, |
846 | 11 | L846R, |
847 | 10 | |
848 | 6 | I848F, |
849 | 9 | |
850 | 13 | V850M, c.2549_2550insTG, |
851 | 12 | F851L, c.2552_2553dupGT, c.2550_2551dupGT, p.F851CfsX19, |
852 | 11 | |
853 | 14 | |
925 | 14 | I925F, |
926 | 15 | |
930 | 13 | c.2788-6C>T, c.2787+17_2787+18insACACACACACACACACACACACA, |
933 | 15 |