In Silico Data
KCNH2 Variant L432Q Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-5.61 | 0.988 | -2 | 0.892 | 56 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|---|---|---|---|---|
LITERATURE, COHORT, AND GNOMAD: | - | 0 | 0 | 0 | - |
VARIANT FEATURES ALONE: | - | 10 | 9 | 1 | - |
L432Q has 38 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
423 | 14 | |
424 | 12 | |
425 | 11 | |
426 | 10 | P426H, |
427 | 8 | Y427S, Y427C, Y427H, |
428 | 6 | S428L, S428X, S428fsX, |
429 | 6 | A429P, A429V, |
430 | 6 | |
431 | 6 | F431L, F431L, F431L, |
432 | 0 | |
450 | 13 | |
452 | 12 | |
453 | 13 | |
456 | 14 | D456Y, |
520 | 10 | |
521 | 13 | |
522 | 9 | G522E, |
523 | 11 | |
524 | 14 | |
525 | 11 | K525N, K525N, |
526 | 13 | |
528 | 15 | R528W, R528P, R528X, |
562 | 15 | H562R, H562Q, H562P, H562Q, |
565 | 14 | |
566 | 11 | C566G, C566R, C566S, C566S, C566F, |
567 | 14 | I567M, I567T, |
569 | 10 | Y569H, Y569X, Y569C, |
570 | 12 | |
572 | 14 | G572C, G572S, G572D, G572R, |
573 | 11 | |
574 | 13 | M574L, M574V, M574L, |
605 | 14 | P605L, |
606 | 13 | S606Del, S606P, S606F, |
607 | 9 | |
608 | 14 | |
609 | 15 | D609N, D609G, |
610 | 12 | |
611 | 13 | Y611D, |