In Silico Data
KCNQ1 Variant V334A Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-3.3 | 0.89 | -2 | 0.931 | 70 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT1 | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT1 | Other Disease |
---|---|---|---|---|---|
32893267 | 2020 | 1 | None | 1 | None |
LITERATURE, COHORT, AND GNOMAD: | - | 1 | 0 | 1 | |
VARIANT FEATURES ALONE: | - | 10 | 4 | 6 | - |
V334A has 26 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
255 | 14 | |
262 | 15 | L262P, L262R, L262V, |
265 | 13 | T265I, |
266 | 11 | L266P, |
268 | 14 | I268V, I268S, |
269 | 11 | G269D, G269S, G269del, |
270 | 11 | F270S, |
271 | 15 | |
272 | 13 | G272D, G272S, G272V, |
273 | 12 | L273F, L273V, L273R, |
274 | 15 | I274V, |
276 | 15 | S276del, |
306 | 12 | G306V, G306R, G306R, |
311 | 14 | T311A, T311I, |
312 | 13 | T312del, T312I, |
313 | 14 | |
325 | 14 | G325R, G325R, G325E, G325W, |
326 | 14 | |
327 | 12 | T327A, T327S, T327S, |
332 | 14 | |
333 | 14 | |
334 | 14 | V334A, |
336 | 13 | A336S, |
339 | 11 | F339del, F339S, |
341 | 14 | A341V, A341E, |
344 | 15 | A344V, A344E, |