In Silico Data
KCNH2 Variant N470K Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-5.393 | 0.997 | 0 | 0.836 | 89 |
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 | 7 | 3 | - |
N470K has 61 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
398 | 14 | W398L, W398X, |
399 | 13 | |
400 | 10 | I400N, |
401 | 12 | |
402 | 11 | H402R, |
403 | 15 | |
404 | 13 | |
406 | 12 | |
407 | 9 | |
408 | 13 | |
409 | 15 | V409L, V409L, V409M, |
410 | 10 | W410X, |
411 | 11 | |
413 | 15 | L413P, |
414 | 11 | I414fsX, |
461 | 15 | |
462 | 12 | M462Ins, |
463 | 11 | F463L, F463L, F463L, |
464 | 11 | I464X, |
465 | 9 | |
466 | 5 | D466E, D466E, |
467 | 6 | |
468 | 7 | L468X, L468F, L468R, |
469 | 5 | |
470 | 0 | N470D, |
471 | 5 | F471X, |
472 | 9 | R472X, R472C, |
473 | 5 | T473P, |
474 | 9 | T474I, |
475 | 10 | Y475C, Y475Del, |
476 | 13 | V476I, |
483 | 13 | V483I, |
484 | 13 | |
485 | 14 | H485X, |
486 | 12 | |
487 | 14 | G487R, G487S, |
488 | 15 | R488C, R488H, |
489 | 9 | I489F, I489I, |
490 | 10 | A490T, A490P, |
491 | 13 | V491I, |
492 | 10 | H492Y, |
493 | 6 | Y493C, Y493Ins, Y493F, Y493H, |
494 | 11 | F494Del, |
496 | 12 | |
497 | 11 | W497L, W497X, |
498 | 9 | |
499 | 13 | |
500 | 13 | I500Del, |
501 | 9 | D501Y, D501H, D501N, |
502 | 12 | M502I, M502I, M502I, |
503 | 15 | |
504 | 13 | A504V, |
505 | 13 | A505V, |
531 | 14 | R531W, R531Q, R531Del, |
533 | 13 | |
534 | 9 | R534C, |
535 | 14 | V535M, |
536 | 15 | A536X, |
537 | 9 | R537W, |
538 | 10 | |
541 | 14 | R541C, R541H, |