In Silico Data
KCNQ1 Variant I235N Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-6.8 | 0.985 | -4 | 0.948 | 42 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT1 | Other Disease |
---|---|---|---|---|---|
32893267 | 2020 | 1 | None | 1 | None |
31520628 | 2019 | 1 | None | 1 | 1 miscarriage |
24269949 | 2014 | 15 | 15 | None | None |
22949429 | 2012 | 2 | None | 2 | None |
21956039 | 2011 | 2 | None | 2 | None |
19841300 | 2009 | 2 | None | 2 | None |
19716085 | 2009 | 2 | None | 2 | None |
19590188 | 2009 | None | None | None | None |
LITERATURE, COHORT, AND GNOMAD: | - | 19 | 15 | 4 | |
VARIANT FEATURES ALONE: | - | 10 | 6 | 4 | - |
Functional Data Homozygously Collected
PubMed ID | Cell Type | Peak Current IKs (%WT) | V1/2 Act. | Activation time (%WT) | Deactivation time (%WT) |
---|---|---|---|---|---|
24269949 | HEK | 10 | None | None | None |
19590188 | Oocytes | None | None | None |
Functional Data Heterozygously Collected
PubMed ID | Cell Type | Peak Current IKs (%WT) | V1/2 Act. | Activation time (%WT) | Deactivation time (%WT) |
---|---|---|---|---|---|
24269949 | HEK | 70 | 16.0 | None | None |
19590188 | Oocytes | 25 | None | None | None |
I235N has 72 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
235 | 0 | I235N, |
236 | 5 | L236Q, L236R, |
275 | 5 | F275del, |
232 | 5 | |
234 | 5 | Q234H, Q234H, |
238 | 6 | M238V, M238L, M238L, |
274 | 6 | I274V, |
233 | 7 | L233P, |
137 | 7 | L137F, L137P, |
237 | 7 | |
278 | 7 | Y278H, |
239 | 7 | |
271 | 8 | |
231 | 9 | R231C, R231H, R231S, |
133 | 9 | V133I, |
229 | 9 | G229D, |
230 | 9 | |
140 | 9 | S140G, S140R, S140R, S140R, |
272 | 9 | G272D, G272S, G272V, |
136 | 10 | |
299 | 10 | |
277 | 10 | S277L, S277del, S277P, S277W, |
240 | 10 | H240R, H240P, |
279 | 10 | F279I, |
205 | 10 | V205M, |
134 | 10 | L134P, |
276 | 10 | S276del, |
273 | 10 | L273F, L273V, L273R, |
141 | 11 | V141M, |
303 | 11 | L303P, |
201 | 11 | I201del, |
130 | 11 | |
267 | 12 | Y267C, |
138 | 12 | |
241 | 12 | V241F, V241I, V241G, |
270 | 12 | F270S, |
282 | 12 | L282P, |
228 | 12 | |
204 | 13 | I204M, I204F, |
269 | 13 | G269D, G269S, G269del, |
209 | 13 | S209P, |
160 | 13 | E160del, E160K, E160V, |
135 | 13 | |
281 | 13 | Y281C, |
268 | 13 | I268V, I268S, |
202 | 13 | D202N, D202H, |
208 | 13 | A208V, |
302 | 13 | A302V, A302E, A302T, |
280 | 13 | V280A, V280E, |
332 | 13 | |
139 | 13 | |
226 | 13 | A226V, |
144 | 14 | T144A, |
132 | 14 | I132L, |
248 | 14 | W248C, W248C, W248R, W248R, |
242 | 14 | D242N, D242Y, |
167 | 14 | |
225 | 14 | S225L, S225del, |
300 | 14 | A300T, A300S, |
143 | 14 | S143F, S143P, S143Y, |
227 | 14 | |
206 | 14 | V206L, |
163 | 14 | |
198 | 14 | I198V, I198T, |
156 | 14 | |
129 | 14 | V129I, |
306 | 15 | G306V, G306R, G306R, |
131 | 15 | |
164 | 15 | |
142 | 15 | |
212 | 15 | |
159 | 15 | M159del, |