In Silico Data
KCNQ1 Variant G269S Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-5.83 | 0.998 | 0 | 0.934 | 73 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT1 | Other Disease |
---|---|---|---|---|---|
32893267 | 2020 | 17 | None | 17 | None |
32470535 | 2020 | None | None | None | None |
30758498 | 2019 | 20 | None | 6 | None |
29439887 | 2018 | 19 | 12 | 6 | None |
29151524 | 2018 | 1 | None | 1 | TdP |
26715165 | 2016 | 1 | None | 1 | None |
24184248 | 2014 | None | None | None | None |
23631430 | 2013 | 3 | None | None | None |
23153844 | 2012 | 43 | None | 1 | None |
22677073 | 2012 | 1 | None | None | SUDS |
19716085 | 2009 | 10 | None | 10 | None |
19490272 | 2009 | 41 | None | 41 | None |
18752142 | 2008 | 20 | None | 3 | RWS |
18713323 | 2008 | 25 | None | None | None |
17470695 | 2007 | 25 | None | 25 | None |
17222736 | 2007 | 1 | None | None | None |
14678125 | 2003 | 2 | None | 2 | None |
12205113 | 2002 | 8 | 7 | 1 | None |
LITERATURE, COHORT, AND GNOMAD: | - | 48 | 20 | 28 | |
VARIANT FEATURES ALONE: | - | 10 | 3 | 7 | - |
Functional Data Homozygously Collected
PubMed ID | Cell Type | Peak Current IKs (%WT) | V1/2 Act. | Activation time (%WT) | Deactivation time (%WT) |
---|---|---|---|---|---|
24184248 | CHO | 15 | 70.7 | 1.0 | 0.4 |
Functional Data Heterozygously Collected
PubMed ID | Cell Type | Peak Current IKs (%WT) | V1/2 Act. | Activation time (%WT) | Deactivation time (%WT) |
---|---|---|---|---|---|
24184248 | CHO | 30 | 27.8 | 1.0 | 0.5 |
G269S has 40 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
269 | 0 | G269D, G269S, G269del, |
268 | 4 | I268V, I268S, |
272 | 5 | G272D, G272S, G272V, |
271 | 5 | |
273 | 6 | L273F, L273V, L273R, |
267 | 7 | Y267C, |
274 | 8 | I274V, |
264 | 9 | |
275 | 10 | F275del, |
276 | 10 | S276del, |
306 | 11 | G306V, G306R, G306R, |
248 | 11 | W248C, W248C, W248R, W248R, |
247 | 11 | T247I, |
238 | 11 | M238V, M238L, M238L, |
334 | 11 | V334A, |
277 | 11 | S277L, S277del, S277P, S277W, |
239 | 12 | |
336 | 12 | A336S, |
335 | 12 | F335L, F335L, F335L, |
339 | 13 | F339del, F339S, |
303 | 13 | L303P, |
235 | 13 | I235N, |
333 | 13 | |
242 | 13 | D242N, D242Y, |
250 | 13 | L250H, L250P, |
261 | 14 | E261K, E261D, E261D, E261G, E261Q, |
251 | 14 | L251P, L251Q, |
266 | 14 | L266P, |
330 | 14 | |
279 | 14 | F279I, |
241 | 14 | V241F, V241I, V241G, |
331 | 14 | |
351 | 14 | F351L, F351L, F351L, F351S, |
278 | 14 | Y278H, |
332 | 14 | |
246 | 15 | |
236 | 15 | L236Q, L236R, |
347 | 15 | L347P, L347R, |
270 | 15 | F270S, |
245 | 15 | G245V, |