In Silico Data
KCNH2 Variant R534C Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-7.668 | 1.0 | -4 | 0.954 | 81 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|---|---|---|---|---|
21308345 | 2010 | 4 | 0 | 4 | |
24667783 | 2015 | 1 | 0 | 1 | |
22727609 | 2012 | 1 | 0 | 1 | |
9600240 | 1998 | 5 | 0 | ||
Japan Cohort | 2020 | 9 | 2 | 7 | |
Italy Cohort | 2020 | 1 | 0 | 1 | |
France Cohort | 2020 | 2 | 0 | 2 | |
19038855 | 2009 | 1 | 0 | 1 | Seizure |
10987356 | 2000 | 3 | 1 | 2 | |
12808265 | 2003 | None | 0 | 1 | |
15840476 | 2005 | 1 | 0 | 1 | |
17905336 | 2007 | 1 | 0 | 1 | |
26496715 | 2015 | 1 | 0 | 1 | |
29650123 | 2018 | 1 | 0 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 24 | 2 | 20 | - |
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) |
---|---|---|---|---|---|---|---|
10690305 | Xeno | 7 | -16.0 | None | None | None | |
15545400 | Xeno | -12.1 | None | None | None | ||
16432067 | HEK293 | 10 | None | 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) |
---|---|---|---|---|---|---|
10690305 | Xeno | 50 | -9.3 | None | None | |
15545400 | Xeno | None | None | None | ||
16432067 | HEK293 | None | None | None |
R534C has 59 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
534 | 0 | R534C, |
501 | 5 | D501Y, D501N, D501H, |
533 | 5 | |
537 | 6 | R537W, |
535 | 7 | V535M, |
538 | 7 | |
531 | 7 | R531W, R531Del, R531Q, |
466 | 7 | D466E, D466E, |
463 | 7 | F463L, F463L, F463L, |
414 | 7 | I414fsX, |
532 | 7 | |
418 | 8 | |
536 | 8 | A536X, |
530 | 8 | |
497 | 8 | W497X, W497L, |
500 | 8 | I500Del, |
504 | 9 | A504V, |
470 | 9 | N470D, |
411 | 9 | |
467 | 9 | |
415 | 9 | |
417 | 10 | |
502 | 10 | M502I, M502I, M502I, |
498 | 10 | |
410 | 10 | W410X, |
493 | 11 | Y493F, Y493Ins, Y493H, Y493C, |
505 | 11 | A505V, |
421 | 11 | T421M, T421fsX, |
503 | 11 | |
542 | 11 | |
462 | 11 | M462Ins, |
529 | 11 | |
469 | 11 | |
464 | 11 | I464X, |
465 | 11 | |
539 | 12 | |
407 | 12 | |
413 | 12 | L413P, |
496 | 12 | |
499 | 12 | |
459 | 12 | |
527 | 12 | |
528 | 12 | R528P, R528W, R528X, |
419 | 12 | |
541 | 13 | R541H, R541C, |
416 | 13 | |
460 | 13 | D460fsX, |
412 | 13 | W412X, |
468 | 13 | L468R, L468X, L468F, |
422 | 13 | A422T, |
471 | 13 | F471X, |
473 | 13 | T473P, |
540 | 14 | D540fsX, |
408 | 14 | |
461 | 14 | |
506 | 14 | I506V, |
420 | 14 | Y420C, |
492 | 15 | H492Y, |
409 | 15 | V409L, V409M, V409L, |