In Silico Data
KCNH2 Variant L799sp Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
None | None | None | None |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|---|---|---|---|---|
11854117 | 2002 | 5 | 0 | 5 | |
10973849 | 2000 | 1 | 0 | 1 | |
15840476 | 2005 | 3 | 0 | 3 | |
15840476 | 2005 | 1 | 0 | 1 | |
LITERATURE, COHORT, AND GNOMAD: | - | 5 | 0 | 5 | - |
VARIANT FEATURES ALONE: | - | 10 | 7 | 3 | - |
L799sp has 78 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
799 | 0 | L799sp, |
800 | 4 | |
787 | 5 | |
798 | 5 | I798fsX, |
803 | 5 | D803X, D803Y, |
797 | 6 | A797T, |
786 | 7 | |
782 | 7 | I782fsX, I782N, |
859 | 7 | T859R, T859M, |
788 | 7 | E788K, E788D, E788D, |
789 | 7 | |
805 | 7 | F805C, F805S, |
860 | 8 | |
56 | 8 | R56Q, |
43 | 8 | Y43D, Y43C, |
785 | 8 | G785S, G785D, G785fsX, |
804 | 8 | |
801 | 9 | K801T, |
42 | 9 | I42N, |
44 | 9 | C44F, C44W, C44X, |
60 | 9 | M60T, |
802 | 9 | |
822 | 9 | V822L, V822L, V822M, |
796 | 10 | V796L, V796L, V796Del, |
824 | 10 | |
828 | 10 | |
825 | 10 | |
783 | 10 | S783P, |
780 | 11 | |
830 | 11 | |
858 | 11 | I858V, I858T, |
781 | 11 | |
795 | 11 | V795I, |
806 | 11 | G806R, G806R, |
790 | 11 | |
826 | 11 | T826I, T826A, |
57 | 11 | A57P, |
16 | 12 | D16A, |
19 | 12 | I19F, |
15 | 12 | L15V, |
41 | 12 | V41A, |
823 | 12 | R823W, R823fsX, R823T, R823Q, |
31 | 12 | I31S, |
45 | 12 | N45K, N45D, N45K, |
61 | 12 | Q61R, |
769 | 12 | |
862 | 12 | L862P, |
829 | 12 | D829E, D829E, D829A, |
46 | 13 | D46E, D46E, D46Y, |
763 | 13 | |
59 | 13 | |
784 | 13 | R784Q, R784G, R784W, |
820 | 13 | G820R, G820R, |
861 | 13 | N861I, N861H, |
770 | 13 | |
55 | 13 | S55L, |
779 | 13 | |
821 | 13 | D821E, D821E, |
12 | 13 | N12D, |
831 | 13 | |
857 | 13 | E857X, |
30 | 14 | I30Del, I30T, |
40 | 14 | |
29 | 14 | F29L, F29V, F29S, F29L, F29L, |
819 | 14 | N819K, N819K, |
13 | 14 | T13N, |
32 | 14 | A32T, |
767 | 14 | D767X, |
49 | 15 | C49R, C49G, |
794 | 15 | V794I, V794D, |
768 | 15 | |
761 | 15 | |
766 | 15 | |
791 | 15 | R791Q, R791W, |
765 | 15 | |
740 | 15 | C740G, C740W, |
764 | 15 | |
736 | 15 |