In Silico Data
SCN5A Variant G833R Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-7.83 | 1 | -3.45 | 0.959 | 9 | 18 |
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: | - | 37 | 37 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 14 | 0 | 1 | - | - |
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) |
---|---|---|---|---|---|---|
32533946 | 2020 | HEK | 109 | 1.3 | 2.2 |
G833R has 36 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
234 | 14 | P234S, |
780 | 13 | |
781 | 13 | W781X, |
816 | 14 | F816L, F816Y, |
819 | 13 | |
824 | 15 | |
825 | 13 | |
826 | 11 | N826D, |
827 | 11 | |
828 | 9 | L828V, |
829 | 7 | |
830 | 7 | |
831 | 6 | |
832 | 4 | |
833 | 0 | G833R, |
834 | 4 | N834D, |
835 | 5 | S835A, S835L, |
836 | 5 | V836M, |
837 | 8 | |
838 | 9 | |
839 | 9 | L839P, |
840 | 11 | |
841 | 13 | N841K, p.N841TfsX2, |
842 | 14 | |
843 | 14 | T843A, |
934 | 14 | |
937 | 12 | |
938 | 13 | |
940 | 13 | S940N, |
941 | 10 | S941F, S941N, |
942 | 11 | |
943 | 15 | S943N, |
944 | 15 | |
1344 | 15 | F1344S, F1344L, |
1456 | 13 | |
1460 | 12 | F1460L, |