In Silico Data
SCN5A Variant c.2435_2436+3delTGGTAinsCGCCT Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
NA | NA | NA | None | 44 | 7 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
20129283 | 2010 | 1 | 0 | 1 | 0 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 1 | 0 | 0 | 1 | - | |
VARIANT FEATURES ALONE: | - | 15 | 12 | 0 | 3 | - | - |
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) |
---|---|---|---|---|---|---|
20129283 | 2010 |
c.2435_2436+3delTGGTAinsCGCCT has 70 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
726 | 14 | |
727 | 12 | |
728 | 14 | V728I, |
729 | 13 | p.L729del, |
730 | 8 | N730K, |
731 | 10 | T731I, |
732 | 13 | |
733 | 10 | F733L, |
734 | 6 | M734V, c.2201dupT, |
735 | 12 | A735E, A735V, A735T, |
736 | 13 | L736P, |
737 | 10 | |
741 | 15 | p.M741_T742delinsI , |
746 | 15 | E746K, |
748 | 14 | M748I, |
749 | 10 | |
750 | 10 | Q750R, |
751 | 13 | V751I, V751F, |
752 | 10 | G752R, |
753 | 7 | |
754 | 11 | |
755 | 13 | |
756 | 11 | |
757 | 9 | |
758 | 13 | G758E, |
759 | 14 | I759V, c.2274delG, p.I759FfsX6, |
760 | 11 | p.F760SfsX5, |
761 | 14 | |
784 | 14 | F784L, |
785 | 14 | D785N, |
786 | 15 | |
787 | 13 | |
788 | 9 | I788V, |
789 | 11 | V789A, V789I, |
790 | 13 | |
791 | 9 | L791F, |
792 | 7 | |
793 | 11 | L793F, |
794 | 11 | |
795 | 6 | |
796 | 9 | |
797 | 12 | G797V, |
798 | 12 | |
799 | 11 | |
800 | 14 | R800H, R800C, R800L, |
804 | 13 | |
805 | 10 | S805L, |
806 | 10 | V806M, |
807 | 8 | |
808 | 5 | R808H, R808C, R808P, |
809 | 6 | |
810 | 7 | |
811 | 0 | c.2435_2436+3delTGGTAinsCGCCT, R811G, R811H, |
812 | 7 | L812Q, |
813 | 8 | c.2437-5C>A, c.2436+12G>A, |
814 | 6 | R814Q, |
815 | 10 | |
816 | 13 | F816Y, F816L, |
817 | 14 | K817E, |
818 | 15 | |
1346 | 14 | L1346P, L1346I, |
1347 | 12 | |
1348 | 14 | F1348L, |
1349 | 13 | |
1350 | 9 | I1350T, I1350L, |
1351 | 11 | M1351R, M1351V, |
1352 | 13 | |
1353 | 12 | V1353M, |
1354 | 9 | |
1355 | 13 |