In Silico Data
KCNQ1 Variant M238L Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-2.92 | 0.624 | 1 | 0.874 | 19 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT1 | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT1 | Other Disease |
---|---|---|---|---|---|
LITERATURE, COHORT, AND GNOMAD: | - | 1 | 1 | 0 | |
VARIANT FEATURES ALONE: | - | 10 | 9 | 1 | - |
M238L has 62 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
126 | 13 | H126D, |
127 | 13 | F127L, F127L, F127L, |
128 | 13 | A128del, |
129 | 11 | V129I, |
130 | 6 | |
131 | 11 | |
132 | 11 | I132L, |
133 | 6 | V133I, |
134 | 7 | L134P, |
135 | 11 | |
136 | 10 | |
137 | 7 | L137F, L137P, |
138 | 12 | |
139 | 14 | |
140 | 12 | S140G, S140R, S140R, S140R, |
141 | 14 | V141M, |
160 | 14 | E160del, E160K, E160V, |
163 | 14 | |
167 | 13 | |
198 | 12 | I198V, I198T, |
201 | 12 | I201del, |
202 | 12 | D202N, D202H, |
204 | 15 | I204M, I204F, |
205 | 12 | V205M, |
229 | 14 | G229D, |
230 | 14 | |
231 | 14 | R231C, R231H, R231S, |
232 | 11 | |
233 | 11 | L233P, |
234 | 8 | Q234H, Q234H, |
235 | 6 | I235N, |
236 | 7 | L236Q, L236R, |
237 | 8 | |
238 | 0 | M238V, M238L, M238L, |
239 | 5 | |
240 | 7 | H240R, H240P, |
241 | 7 | V241F, V241I, V241G, |
242 | 9 | D242N, D242Y, |
243 | 12 | R243H, R243C, R243P, R243S, |
245 | 14 | G245V, |
246 | 14 | |
247 | 12 | T247I, |
248 | 11 | W248C, W248C, W248R, W248R, |
263 | 15 | |
264 | 14 | |
265 | 15 | T265I, |
266 | 13 | L266P, |
267 | 7 | Y267C, |
268 | 10 | I268V, I268S, |
269 | 11 | G269D, G269S, G269del, |
270 | 10 | F270S, |
271 | 6 | |
272 | 10 | G272D, G272S, G272V, |
273 | 11 | L273F, L273V, L273R, |
274 | 8 | I274V, |
275 | 8 | F275del, |
276 | 13 | S276del, |
277 | 13 | S277L, S277del, S277P, S277W, |
278 | 12 | Y278H, |
279 | 15 | F279I, |
299 | 13 | |
303 | 13 | L303P, |