In Silico Data
SCN5A Variant R535X Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
NA | NA | NA | None | 1 | 50 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
25757662 | 2015 | 1 | 0 | 0 | 1 | SIDS | |
15890323 | 2005 | 1 | 0 | 1 | 0 | ||
19251209 | 2009 | 1 | 0 | 1 | 0 | ||
12106943 | 2002 | 1 | 0 | 1 | 0 | ||
16643399 | 2006 | 1 | 0 | 1 | 0 | ||
17404158 | 2007 | 1 | 0 | 1 | 0 | ||
20031634 | 2009 | 9 | 0 | 5 | 0 | ||
23631430 | 2013 | 1 | 1 | 0 | 0 | ||
26921764 | 2016 | 1 | 0 | 1 | 0 | ||
28361098 | 2017 | 3 | 0 | 0 | 3 | Conduction defects, Epilepsy | |
20129283 | 2010 | 1 | 0 | 1 | 0 | ||
20129283 | 2010 | 1 | 0 | 1 | 0 | ||
20129283 | 2010 | 1 | 0 | 1 | 0 | ||
20129283 | 2010 | 1 | 0 | 1 | 0 | ||
29325976 | 2018 | 1 | 0 | 1 | 0 | ||
30059973 | 2018 | 4 | 4 | 0 | 0 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 13 | 5 | 1 | 7 | - | |
VARIANT FEATURES ALONE: | - | 15 | 13 | 1 | 1 | - | - |
Functional Data
PubMed ID | Year | Cell Type | Peak Current (%WT) | V1/2 Act. (mV) | V1/2 Inact. (mV) | Late/Persistent Current (%WT) |
---|---|---|---|---|---|---|
16643399 | 2006 | |||||
17404158 | 2007 | |||||
25757662 | 2015 | 0 | ||||
15890323 | 2005 | HEK | 0 | |||
20031634 | 2009 | |||||
23631430 | 2013 | |||||
26921764 | 2016 | |||||
28361098 | 2017 | |||||
20129283 | 2010 | |||||
20129283 | 2010 | |||||
20129283 | 2010 | |||||
20129283 | 2010 | |||||
29325976 | 2018 | |||||
30059973 | 2018 | |||||
19251209 | 2009 | |||||
12106943 | 2002 |