In Silico Data
SCN5A Variant G514D Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
NA | NA | NA | 0.547 | 56 | 0 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
LITERATURE, COHORT, AND GNOMAD: | - | 0 | 0 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 12 | 0 | 3 | - | - |
G514D has 31 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
499 | 15 | |
500 | 14 | E500K, |
501 | 14 | D501G, |
502 | 13 | |
503 | 13 | P503S, |
504 | 12 | R504T, |
505 | 11 | A505E, |
506 | 11 | M506K, |
507 | 10 | p.N507_L515dup, |
508 | 9 | |
509 | 8 | |
510 | 8 | |
511 | 7 | |
512 | 5 | T512I, |
513 | 4 | R513H, R513C, R513P, c.1537delC, |
514 | 0 | G514C, |
515 | 4 | |
516 | 5 | |
517 | 7 | R517S, |
518 | 8 | |
519 | 8 | S519F, |
520 | 9 | M520V, M520R, |
521 | 10 | c.1562delA, K521E, |
522 | 11 | P522S, |
523 | 11 | R523S, R523H, R523C, |
524 | 12 | S524Y, c.1570_1571insG, |
525 | 13 | S525G, |
526 | 13 | R526C, R526H, |
527 | 14 | G527R, |
528 | 14 | S528R, |
529 | 15 |