In Silico Data
SCN5A Variant N134S Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
1.77 | 0 | 1.07 | 0.233 | 18 | 0 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
LITERATURE, COHORT, AND GNOMAD: | - | 1 | 1 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 14 | 0 | 1 | - | - |
N134S has 43 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
123 | 15 | A123G, A123V, |
124 | 12 | A124D, |
125 | 12 | V125L, |
126 | 13 | K126E, |
127 | 9 | |
128 | 7 | c.381dupT, |
129 | 7 | |
130 | 7 | |
131 | 5 | |
132 | 7 | c.393-5C>A, |
133 | 4 | |
134 | 0 | N134S, |
135 | 5 | M135V, |
136 | 7 | L136P, |
137 | 6 | I137V, |
138 | 7 | M138I, |
139 | 9 | p.I137_C139dup, |
140 | 11 | |
141 | 11 | I141N, I141V, |
142 | 13 | |
143 | 15 | |
167 | 12 | |
168 | 12 | |
170 | 12 | F170I, |
171 | 9 | |
172 | 13 | |
173 | 15 | |
174 | 11 | V174I, |
175 | 10 | K175N, |
178 | 13 | A178G, |
179 | 14 | R179Q, R179X, |
193 | 15 | W193X, W193R, |
194 | 13 | |
197 | 12 | |
198 | 15 | |
225 | 12 | R225W, R225Q, |
226 | 15 | A226G, A226V, |
228 | 10 | K228R, |
229 | 12 | |
230 | 14 | I230V, I230T, I230M, |
231 | 10 | c.692_693delCA, |
232 | 10 | V232I, V232F, |
233 | 15 |