In Silico Data
KCNH2 Variant F463V Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-6.487 | 0.987 | -1 | 0.95 | 79 |
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 | - |
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) |
---|
PubMed ID | Cell Type | S.S Peak (%WT) | Peak Tail IKr (%WT) | V1/2 Act. | V1/2 Inact. | Recov. Inact. | Deactivation (%WT) |
---|---|---|---|---|---|---|---|
23980197 | Xeno | 4.6 | 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) |
---|
PubMed ID | Cell Type | S.S Peak (%WT) | Peak Tail IKr (%WT) | V1/2 Act. | V1/2 Inact. | Deactivation (%WT) |
---|---|---|---|---|---|---|
23980197 | Xeno | None | None | None |
F463V has 59 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
407 | 13 | |
410 | 10 | W410X, |
411 | 12 | |
413 | 10 | L413P, |
414 | 7 | I414fsX, |
415 | 11 | |
416 | 12 | |
417 | 7 | |
418 | 8 | |
419 | 12 | |
420 | 11 | Y420C, |
421 | 9 | T421fsX, T421M, |
422 | 13 | A422T, |
424 | 15 | |
425 | 13 | |
455 | 13 | |
456 | 11 | D456Y, |
457 | 11 | L457P, |
458 | 10 | |
459 | 6 | |
460 | 6 | D460fsX, |
461 | 7 | |
462 | 6 | M462Ins, |
463 | 0 | F463L, F463L, F463L, |
464 | 6 | I464X, |
465 | 7 | |
466 | 6 | D466E, D466E, |
467 | 8 | |
468 | 11 | L468X, L468F, L468R, |
469 | 11 | |
470 | 11 | N470D, |
471 | 14 | F471X, |
493 | 14 | Y493C, Y493Ins, Y493F, Y493H, |
497 | 14 | W497L, W497X, |
498 | 12 | |
499 | 14 | |
500 | 12 | I500Del, |
501 | 8 | D501Y, D501H, D501N, |
502 | 10 | M502I, M502I, M502I, |
503 | 10 | |
504 | 7 | A504V, |
505 | 7 | A505V, |
506 | 11 | I506V, |
507 | 11 | P507L, P507S, |
508 | 15 | |
525 | 14 | K525N, K525N, |
526 | 14 | |
527 | 11 | |
528 | 9 | R528W, R528X, R528P, |
529 | 12 | |
530 | 10 | |
531 | 5 | R531W, R531Q, R531Del, |
532 | 11 | |
533 | 11 | |
534 | 7 | R534C, |
535 | 12 | V535M, |
536 | 15 | A536X, |
537 | 13 | R537W, |
538 | 12 |