In Silico Data
KCNH2 Variant A505V Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-3.773 | 0.984 | 0 | 0.886 | 26 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|---|---|---|---|---|
LITERATURE, COHORT, AND GNOMAD: | - | 0 | 1 | 0 | - |
VARIANT FEATURES ALONE: | - | 10 | 9 | 1 | - |
A505V has 47 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
414 | 14 | I414fsX, |
417 | 13 | |
418 | 14 | |
421 | 13 | T421M, T421fsX, |
425 | 14 | |
456 | 12 | D456Y, |
457 | 12 | L457P, |
458 | 13 | |
459 | 10 | |
460 | 7 | D460fsX, |
461 | 9 | |
462 | 11 | M462Ins, |
463 | 7 | F463L, F463L, F463L, |
464 | 6 | I464X, |
465 | 10 | |
466 | 10 | D466E, D466E, |
467 | 8 | |
468 | 11 | L468R, L468F, L468X, |
469 | 14 | |
470 | 13 | N470D, |
471 | 14 | F471X, |
493 | 13 | Y493Ins, Y493F, Y493C, Y493H, |
494 | 15 | F494Del, |
497 | 15 | W497L, W497X, |
498 | 10 | |
499 | 11 | |
500 | 10 | I500Del, |
501 | 8 | D501Y, D501N, D501H, |
502 | 5 | M502I, M502I, M502I, |
503 | 6 | |
504 | 4 | A504V, |
505 | 0 | A505V, |
506 | 4 | I506V, |
507 | 6 | P507S, P507L, |
508 | 9 | |
509 | 14 | D509N, |
524 | 12 | |
525 | 12 | K525N, K525N, |
526 | 13 | |
527 | 9 | |
528 | 9 | R528P, R528W, R528X, |
529 | 13 | |
530 | 10 | |
531 | 8 | R531W, R531Q, R531Del, |
532 | 14 | |
533 | 13 | |
534 | 11 | R534C, |