In Silico Data
KCNH2 Variant L532R Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-5.751 | 1.0 | -2 | 0.975 | 70 |
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 | - |
L532R has 54 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
411 | 13 | |
412 | 14 | W412X, |
413 | 14 | L413P, |
414 | 10 | I414fsX, |
415 | 9 | |
416 | 12 | |
417 | 10 | |
418 | 6 | |
419 | 8 | |
420 | 12 | Y420C, |
421 | 8 | T421fsX, T421M, |
422 | 8 | A422T, |
423 | 11 | |
424 | 14 | |
425 | 12 | |
426 | 13 | P426H, |
459 | 14 | |
460 | 15 | D460fsX, |
463 | 11 | F463L, F463L, F463L, |
466 | 13 | D466E, D466E, |
497 | 12 | W497X, W497L, |
499 | 15 | |
500 | 10 | I500Del, |
501 | 10 | D501N, D501H, D501Y, |
502 | 14 | M502I, M502I, M502I, |
503 | 13 | |
504 | 11 | A504V, |
505 | 14 | A505V, |
526 | 12 | |
527 | 11 | |
528 | 11 | R528P, R528X, R528W, |
529 | 6 | |
530 | 7 | |
531 | 7 | R531Del, R531W, R531Q, |
532 | 0 | |
533 | 5 | |
534 | 7 | R534C, |
535 | 5 | V535M, |
536 | 7 | A536X, |
537 | 10 | R537W, |
538 | 10 | |
539 | 11 | |
540 | 15 | D540fsX, |
542 | 11 | |
551 | 14 | F551L, F551L, F551L, |
552 | 11 | L552S, |
553 | 14 | L553V, |
555 | 11 | |
556 | 10 | |
558 | 14 | A558E, A558P, A558V, |
559 | 10 | L559H, L559F, |
560 | 12 | I560M, I560fsX, |
562 | 14 | H562Q, H562Q, H562P, H562R, |
563 | 10 | W563G, W563X, W563C, W563C, |