In Silico Data
KCNH2 Variant W497G Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-12.18 | 1.0 | -3 | 0.922 | 76 |
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 | - |
W497G has 39 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
411 | 15 | |
414 | 15 | I414fsX, |
463 | 14 | F463L, F463L, F463L, |
466 | 13 | D466E, D466E, |
467 | 12 | |
470 | 11 | N470D, |
471 | 13 | F471X, |
473 | 14 | T473P, |
475 | 13 | Y475C, Y475Del, |
476 | 14 | V476I, |
477 | 15 | |
489 | 14 | I489F, I489I, |
490 | 13 | A490T, A490P, |
491 | 13 | V491I, |
492 | 9 | H492Y, |
493 | 8 | Y493C, Y493Ins, Y493F, Y493H, |
494 | 11 | F494Del, |
495 | 9 | K495X, |
496 | 5 | |
497 | 0 | W497L, W497X, |
498 | 8 | |
499 | 8 | |
500 | 7 | I500Del, |
501 | 7 | D501Y, D501H, D501N, |
502 | 11 | M502I, M502I, M502I, |
503 | 12 | |
504 | 13 | A504V, |
505 | 15 | A505V, |
530 | 11 | |
531 | 13 | R531W, R531Q, R531Del, |
532 | 12 | |
533 | 7 | |
534 | 8 | R534C, |
535 | 11 | V535M, |
536 | 9 | A536X, |
537 | 5 | R537W, |
538 | 9 | |
539 | 13 | |
540 | 14 | D540fsX, |