In Silico Data
KCNH2 Variant Y652A Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
None | None | None | None | 68 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|---|---|---|---|---|
LITERATURE, COHORT, AND GNOMAD: | - | 0 | 0 | 0 | - |
VARIANT FEATURES ALONE: | - | 10 | 4 | 6 | - |
Functional Data Homozygously Collected
PubMed ID | Cell Type | S.S Peak (%WT) | Peak Tail IKr (%WT) | V1/2 Act. | V1/2 Inact. | Recov. Inact. | Deactivation (%WT) |
---|---|---|---|---|---|---|---|
11005845 | Xeno | 27 | None | None | None | None | |
11455010 | Xeno | 120 | None | None | None | None | |
11960982 | Xeno | 45 | None | None | None | None | |
12839862 | HEK293 | None | None | None | None | ||
17325511 | Xeno | 2.2 | 15.2 | None | None | ||
18690032 | Xeno | -1.8 | None | None | None | ||
18690396 | Xeno | 50 | None | None | None | None | |
19673885 | HEK293 | None | None | None | None | ||
19892753 | Xeno | -14.4 | None | None | None |
Functional Data Heterozygously Collected
PubMed ID | Cell Type | S.S Peak (%WT) | Peak Tail IKr (%WT) | V1/2 Act. | V1/2 Inact. | Deactivation (%WT) |
---|---|---|---|---|---|---|
11005845 | Xeno | None | None | None | ||
11455010 | Xeno | None | None | None | ||
11960982 | Xeno | None | None | None | ||
12839862 | HEK293 | None | None | None | ||
17325511 | Xeno | None | None | None | ||
18690032 | Xeno | None | None | None | ||
18690396 | Xeno | None | None | None | ||
19673885 | HEK293 | None | None | None | ||
19892753 | Xeno | None | None | None |
Y652A has 81 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
652 | 0 | Y652X, |
656 | 5 | F656L, F656L, F656L, |
653 | 5 | |
623 | 6 | T623I, |
648 | 7 | G648A, |
649 | 7 | |
651 | 7 | M651K, |
649 | 7 | |
622 | 7 | L622F, |
655 | 7 | |
624 | 7 | S624R, S624R, S624R, S624N, |
654 | 8 | |
653 | 8 | |
557 | 8 | |
650 | 9 | L650X, |
657 | 9 | G657S, G657V, |
652 | 9 | Y652X, |
652 | 9 | Y652X, |
648 | 10 | G648A, |
624 | 10 | S624R, S624R, S624R, S624N, |
650 | 10 | L650X, |
656 | 10 | F656L, F656L, F656L, |
623 | 10 | T623I, |
624 | 10 | S624R, S624R, S624R, S624N, |
659 | 10 | |
647 | 10 | |
621 | 10 | S621R, S621N, S621R, S621R, |
619 | 11 | |
646 | 11 | |
645 | 11 | M645I, M645V, M645I, M645L, M645I, M645L, M645R, |
625 | 11 | V625E, |
660 | 11 | S660L, |
554 | 11 | |
658 | 11 | |
620 | 11 | S620G, S620I, |
660 | 11 | S660L, |
645 | 12 | M645I, M645V, M645I, M645L, M645I, M645L, M645R, |
625 | 12 | V625E, |
644 | 12 | V644I, V644F, |
553 | 12 | L553V, |
624 | 12 | S624R, S624R, S624R, S624N, |
560 | 12 | I560M, I560fsX, |
654 | 12 | |
646 | 12 | |
623 | 12 | T623I, |
653 | 12 | |
657 | 12 | G657S, G657V, |
651 | 12 | M651K, |
652 | 13 | Y652X, |
659 | 13 | |
622 | 13 | L622F, |
647 | 13 | |
618 | 13 | T618S, T618S, |
556 | 13 | |
558 | 13 | A558E, A558P, A558V, |
656 | 13 | F656L, F656L, F656L, |
561 | 13 | A561V, A561T, A561P, |
657 | 13 | G657S, G657V, |
621 | 13 | S621R, S621N, S621R, S621R, |
625 | 14 | V625E, |
626 | 14 | G626A, G626S, G626V, |
653 | 14 | |
644 | 14 | V644I, V644F, |
622 | 14 | L622F, |
655 | 14 | |
661 | 14 | A661V, |
655 | 14 | |
625 | 14 | V625E, |
663 | 14 | |
642 | 14 | I642V, I642Del, |
550 | 15 | |
623 | 15 | T623I, |
649 | 15 | |
620 | 15 | S620G, S620I, |
557 | 15 | |
649 | 15 | |
554 | 15 | |
648 | 15 | G648A, |
555 | 15 | |
643 | 15 | |
626 | 15 | G626A, G626S, G626V, |