In Silico Data
KCNH2 Variant R537G Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-6.709 | 0.999 | -3 | 0.753 | 59 |
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 | - |
R537G has 52 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
3 | 13 | |
4 | 14 | |
402 | 13 | H402R, |
407 | 12 | |
408 | 14 | |
410 | 13 | W410X, |
411 | 10 | |
412 | 14 | W412X, |
414 | 11 | I414fsX, |
415 | 12 | |
417 | 15 | |
418 | 12 | |
463 | 13 | F463L, F463L, F463L, |
466 | 11 | D466E, D466E, |
467 | 12 | |
469 | 13 | |
470 | 9 | N470D, |
471 | 14 | F471X, |
473 | 13 | T473P, |
474 | 13 | T474I, |
475 | 12 | Y475Del, Y475C, |
476 | 13 | V476I, |
477 | 15 | |
489 | 14 | I489I, I489F, |
492 | 11 | H492Y, |
493 | 10 | Y493F, Y493C, Y493Ins, Y493H, |
494 | 14 | F494Del, |
495 | 14 | K495X, |
496 | 9 | |
497 | 5 | W497L, W497X, |
498 | 11 | |
499 | 12 | |
500 | 10 | I500Del, |
501 | 8 | D501N, D501H, D501Y, |
502 | 13 | M502I, M502I, M502I, |
503 | 14 | |
504 | 13 | A504V, |
529 | 15 | |
530 | 11 | |
531 | 12 | R531W, R531Q, R531Del, |
532 | 10 | |
533 | 6 | |
534 | 6 | R534C, |
535 | 7 | V535M, |
536 | 5 | A536X, |
537 | 0 | R537W, |
538 | 4 | |
539 | 9 | |
540 | 10 | D540fsX, |
541 | 11 | R541C, R541H, |
542 | 10 | |
543 | 14 | S543fsX, |