In Silico Data
SCN5A Variant Q750R Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-1.38 | 0.049 | -0.12 | 0.633 | 8 | 51 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
19716085 | 2009 | 1 | 1 | 0 | 0 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 1 | 0 | 1 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 13 | 1 | 1 | - | - |
Functional Data
Q750R has 42 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
729 | 15 | p.L729del, |
730 | 12 | N730K, |
732 | 15 | |
733 | 10 | F733L, |
734 | 12 | c.2201dupT, M734V, |
735 | 14 | A735T, A735V, A735E, |
736 | 13 | L736P, |
737 | 11 | |
741 | 11 | p.M741_T742delinsI , |
742 | 13 | T742A, |
743 | 11 | |
744 | 12 | |
745 | 11 | |
746 | 8 | E746K, |
747 | 6 | E747A, |
748 | 8 | M748I, |
749 | 6 | |
750 | 0 | Q750R, |
751 | 5 | V751F, V751I, |
752 | 6 | G752R, |
753 | 5 | |
754 | 6 | |
755 | 9 | |
756 | 11 | |
757 | 10 | |
758 | 13 | G758E, |
759 | 14 | c.2274delG, p.I759FfsX6, I759V, |
760 | 15 | p.F760SfsX5, |
792 | 12 | |
793 | 14 | L793F, |
795 | 10 | |
796 | 9 | |
797 | 12 | G797V, |
798 | 14 | |
799 | 9 | |
800 | 10 | R800C, R800L, R800H, |
802 | 14 | |
807 | 15 | |
808 | 10 | R808C, R808P, R808H, |
811 | 10 | R811G, c.2435_2436+3delTGGTAinsCGCCT, R811H, |
814 | 14 | R814Q, |
1354 | 14 |