In Silico Data
SCN5A Variant T531A Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-1.01 | 0.983 | 0.57 | 0.538 | 3 | 6 |
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: | - | 2 | 2 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 15 | 0 | 0 | - | - |
T531A has 31 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
516 | 15 | |
517 | 14 | R517S, |
518 | 14 | |
519 | 13 | S519F, |
520 | 13 | M520V, M520R, |
521 | 12 | K521E, c.1562delA, |
522 | 11 | P522S, |
523 | 11 | R523C, R523H, R523S, |
524 | 10 | c.1570_1571insG, S524Y, |
525 | 9 | S525G, |
526 | 8 | R526H, R526C, |
527 | 8 | G527R, |
528 | 7 | S528R, |
529 | 5 | |
530 | 4 | F530S, F530V, |
531 | 0 | T531I, T531A, |
532 | 4 | F532L, F532C, |
533 | 5 | R533S, R533H, R533C, |
534 | 7 | |
535 | 8 | R535Q, R535G, R535X, |
536 | 8 | D536H, |
537 | 9 | |
538 | 10 | G538D, |
539 | 11 | |
540 | 11 | |
541 | 12 | |
542 | 13 | |
543 | 13 | F543L, |
544 | 14 | |
545 | 14 | |
546 | 15 |