In Silico Data
KCNH2 Variant C555F Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-10.243 | 0.41 | -2 | 0.847 | 44 |
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 | 8 | 2 | - |
C555F has 55 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
412 | 13 | W412X, |
414 | 14 | I414fsX, |
415 | 9 | |
416 | 11 | |
417 | 14 | |
418 | 11 | |
419 | 7 | |
420 | 14 | Y420C, |
421 | 13 | T421M, T421fsX, |
422 | 10 | A422T, |
423 | 11 | |
424 | 14 | |
529 | 15 | |
532 | 11 | |
535 | 12 | V535M, |
536 | 14 | A536X, |
539 | 14 | |
542 | 12 | |
543 | 14 | S543fsX, |
546 | 14 | |
547 | 12 | A547T, |
548 | 10 | |
549 | 10 | V549M, |
550 | 9 | |
551 | 5 | F551L, F551L, F551L, |
552 | 5 | L552S, |
553 | 7 | L553V, |
554 | 6 | |
555 | 0 | |
556 | 4 | |
557 | 7 | |
558 | 6 | A558E, A558P, A558V, |
559 | 6 | L559F, L559H, |
560 | 9 | I560fsX, I560M, |
561 | 11 | A561P, A561V, A561T, |
562 | 11 | H562R, H562P, H562Q, H562Q, |
563 | 11 | W563C, W563G, W563C, W563X, |
564 | 15 | L564L, |
615 | 14 | L615V, L615F, |
619 | 12 | |
622 | 14 | L622F, |
642 | 14 | I642Del, I642V, |
643 | 15 | |
646 | 11 | |
647 | 15 | |
649 | 13 | |
650 | 13 | L650X, |
651 | 12 | M651K, |
652 | 15 | Y652X, |
654 | 15 | |
655 | 10 | |
656 | 12 | F656L, F656L, F656L, |
658 | 14 | |
659 | 12 | |
662 | 15 |