In Silico Data
KCNH2 Variant S543T Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-2.875 | 0.987 | 1 | 0.877 | 33 |
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 | - |
S543T has 49 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
3 | 9 | |
4 | 13 | |
408 | 13 | |
411 | 12 | |
412 | 10 | W412X, |
415 | 12 | |
535 | 11 | V535M, |
536 | 11 | A536X, |
537 | 14 | R537W, |
538 | 11 | |
539 | 6 | |
540 | 5 | D540fsX, |
541 | 8 | R541C, R541H, |
542 | 6 | |
543 | 0 | S543fsX, |
544 | 5 | E544fsX, E544A, |
545 | 7 | |
546 | 7 | |
547 | 9 | A547T, |
548 | 7 | |
549 | 6 | V549M, |
550 | 11 | |
551 | 12 | F551L, F551L, F551L, |
552 | 9 | L552S, |
553 | 11 | L553V, |
555 | 14 | |
556 | 14 | |
655 | 15 | |
658 | 13 | |
659 | 14 | |
661 | 14 | A661V, |
662 | 11 | |
665 | 10 | R665Q, |
666 | 13 | |
667 | 14 | Y667X, |
669 | 13 | G669R, G669X, G669C, |
670 | 10 | |
671 | 11 | A671Del, A671G, |
672 | 15 | R672C, R672H, |
673 | 10 | |
674 | 7 | H674fsX, H674Y, |
675 | 12 | |
676 | 15 | Q676X, Q676fsX, |
677 | 11 | M677T, |
678 | 11 | |
681 | 11 | R681W, |
698 | 15 | E698X, E698K, |
702 | 13 | |
705 | 15 | W705fsX, W705X, |