In Silico Data
KCNH2 Variant K525T Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-5.751 | 1.0 | -1 | 0.96 | 14 |
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 | - |
K525T has 46 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
418 | 15 | |
420 | 12 | Y420C, |
421 | 10 | T421fsX, T421M, |
422 | 12 | A422T, |
423 | 13 | |
424 | 11 | |
425 | 7 | |
426 | 9 | P426H, |
427 | 12 | Y427H, Y427C, Y427S, |
428 | 8 | S428L, S428fsX, S428X, |
429 | 7 | A429P, A429V, |
430 | 11 | |
431 | 13 | F431L, F431L, F431L, |
432 | 11 | |
452 | 13 | |
453 | 12 | |
454 | 15 | |
455 | 14 | |
456 | 9 | D456Y, |
457 | 12 | L457P, |
459 | 12 | |
460 | 10 | D460fsX, |
463 | 14 | F463L, F463L, F463L, |
502 | 15 | M502I, M502I, M502I, |
503 | 12 | |
504 | 10 | A504V, |
505 | 12 | A505V, |
506 | 10 | I506V, |
507 | 9 | P507S, P507L, |
508 | 8 | |
509 | 11 | D509N, |
510 | 12 | |
520 | 10 | |
521 | 9 | |
522 | 5 | G522E, |
523 | 7 | |
524 | 5 | |
525 | 0 | K525N, K525N, |
526 | 6 | |
527 | 7 | |
528 | 5 | R528W, R528X, R528P, |
529 | 10 | |
530 | 12 | |
531 | 11 | R531W, R531Del, R531Q, |
563 | 15 | W563G, W563C, W563X, W563C, |
566 | 14 | C566S, C566S, C566F, C566G, C566R, |