In Silico Data
KCNH2 Variant V535M Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-2.875 | 1.0 | 1 | 0.917 | 35 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|---|---|---|---|---|
22173492 | 2011 | 2 | 2 | ||
Italy Cohort | 2020 | 1 | 0 | 1 | |
LITERATURE, COHORT, AND GNOMAD: | - | 4 | 3 | 1 | - |
VARIANT FEATURES ALONE: | - | 10 | 9 | 1 | - |
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) |
---|
PubMed ID | Cell Type | S.S Peak (%WT) | Peak Tail IKr (%WT) | V1/2 Act. | V1/2 Inact. | Recov. Inact. | Deactivation (%WT) |
---|---|---|---|---|---|---|---|
22173492 | HEK293 | 60 | None | -18.71 | 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) |
---|
PubMed ID | Cell Type | S.S Peak (%WT) | Peak Tail IKr (%WT) | V1/2 Act. | V1/2 Inact. | Deactivation (%WT) |
---|---|---|---|---|---|---|
22173492 | HEK293 | None | None | None |
V535M has 49 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
3 | 14 | |
407 | 13 | |
408 | 13 | |
409 | 14 | V409L, V409M, V409L, |
410 | 13 | W410X, |
411 | 9 | |
412 | 10 | W412X, |
413 | 12 | L413P, |
414 | 8 | I414fsX, |
415 | 7 | |
416 | 11 | |
417 | 11 | |
418 | 8 | |
419 | 10 | |
420 | 15 | Y420C, |
421 | 12 | T421M, T421fsX, |
422 | 12 | A422T, |
463 | 12 | F463L, F463L, F463L, |
466 | 12 | D466E, D466E, |
470 | 14 | N470D, |
497 | 11 | W497L, W497X, |
500 | 13 | I500Del, |
501 | 11 | D501N, D501H, D501Y, |
504 | 14 | A504V, |
529 | 12 | |
530 | 11 | |
531 | 11 | R531Del, R531Q, R531W, |
532 | 5 | |
533 | 6 | |
534 | 7 | R534C, |
535 | 0 | V535M, |
536 | 4 | A536X, |
537 | 7 | R537W, |
538 | 5 | |
539 | 6 | |
540 | 9 | D540fsX, |
541 | 10 | R541H, R541C, |
542 | 6 | |
543 | 11 | S543fsX, |
544 | 14 | E544fsX, E544A, |
548 | 13 | |
549 | 12 | V549M, |
551 | 12 | F551L, F551L, F551L, |
552 | 9 | L552S, |
553 | 13 | L553V, |
555 | 12 | |
556 | 11 | |
559 | 13 | L559H, L559F, |
563 | 15 | W563G, W563C, W563C, W563X, |