In Silico Data
SCN5A Variant M506K Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
0.9 | 0.002 | 0.64 | 0.476 | 3 | 29 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
23631430 | 2013 | 1 | 1 | 0 | 0 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 2 | 1 | 1 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 15 | 0 | 0 | - | - |
Functional Data
PubMed ID | Year | Cell Type | Peak Current (%WT) | V1/2 Act. (mV) | V1/2 Inact. (mV) | Late/Persistent Current (%WT) |
---|
PubMed ID | Year | Cell Type | Peak Current (%WT) | V1/2 Act. (mV) | V1/2 Inact. (mV) | Late/Persistent Current (%WT) |
---|---|---|---|---|---|---|
23631430 | 2013 |
M506K has 31 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
491 | 15 | E491G, |
492 | 14 | |
493 | 14 | R493K, |
494 | 13 | |
495 | 13 | |
496 | 12 | K496N, K496M, |
497 | 11 | S497C, |
498 | 11 | |
499 | 10 | |
500 | 9 | E500K, |
501 | 8 | D501G, |
502 | 8 | |
503 | 7 | P503S, |
504 | 5 | R504T, |
505 | 4 | A505E, |
506 | 0 | M506K, |
507 | 4 | p.N507_L515dup, |
508 | 5 | |
509 | 7 | |
510 | 8 | |
511 | 8 | |
512 | 9 | T512I, |
513 | 10 | R513H, R513P, c.1537delC, R513C, |
514 | 11 | G514C, |
515 | 11 | |
516 | 12 | |
517 | 13 | R517S, |
518 | 13 | |
519 | 14 | S519F, |
520 | 14 | M520R, M520V, |
521 | 15 | K521E, c.1562delA, |