In Silico Data
SCN5A Variant G911E Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-5.19 | 1 | -2.31 | 0.931 | 17 | 8 |
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: | - | 1 | 1 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 13 | 0 | 2 | - | - |
G911E has 37 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
350 | 12 | H350Q, |
351 | 13 | G351D, G351C, G351S, G351V, |
352 | 10 | Y352C, |
359 | 14 | A359T, p.A359PfsX12, |
360 | 12 | |
363 | 14 | |
857 | 14 | G857D, |
860 | 12 | p.L860fsx89, |
861 | 10 | c.2582_2583delTT, p.F861WfsX90, |
862 | 13 | |
863 | 13 | |
864 | 9 | |
865 | 12 | |
867 | 13 | E867K, E867X, E867Q, |
868 | 11 | L868X, c.2602delC, |
870 | 14 | |
871 | 14 | |
881 | 14 | |
900 | 15 | |
902 | 13 | |
903 | 10 | p.M903CfsX29, |
904 | 11 | W904X, |
905 | 11 | |
906 | 7 | |
907 | 6 | |
908 | 8 | |
909 | 7 | |
910 | 4 | S910L, |
911 | 0 | G911E, |
912 | 4 | Q912R, |
913 | 5 | |
914 | 8 | |
915 | 7 | C915R, |
916 | 10 | |
917 | 12 | L917V, L917R, |
918 | 13 | |
919 | 13 |