In Silico Data
SCN5A Variant P2005A Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-0.23 | 0.005 | -0.28 | 0.236 | 6 | 7 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
26412604 | 2016 | 1 | 0 | 0 | 0 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 1 | 1 | 0 | 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) |
---|---|---|---|---|---|---|
26412604 | 2016 |
P2005A has 27 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
1990 | 15 | V1990L, |
1991 | 14 | R1991W, R1991Q, |
1992 | 14 | G1992A, |
1993 | 13 | |
1994 | 13 | |
1995 | 12 | Y1995X, |
1996 | 11 | S1996N, S1996R, |
1997 | 11 | H1997R, |
1998 | 10 | |
1999 | 9 | |
2000 | 8 | D2000Y, |
2001 | 8 | |
2002 | 7 | A2002T, |
2003 | 5 | D2003N, |
2004 | 4 | F2004L, F2004V, F2004I, p.F2004dup, |
2005 | 0 | P2005A, P2005S, P2005L, |
2006 | 4 | p.P2006LfsX32, p.Pro2006del, P2006T, P2006A, |
2007 | 5 | p.S2007FfsX7, |
2008 | 7 | P2008L, |
2009 | 8 | D2009E, |
2010 | 8 | R2010G, |
2011 | 9 | |
2012 | 10 | R2012H, R2012C, |
2013 | 11 | |
2014 | 11 | |
2015 | 12 | |
2016 | 13 | V2016L, V2016M, |