In Silico Data
KCNH2 Variant A797T Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-3.857 | 0.996 | 0 | 0.95 | 73 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|---|---|---|---|---|
26496715 | 2015 | 2 | 0 | 2 | |
LITERATURE, COHORT, AND GNOMAD: | - | 2 | 0 | 2 | - |
VARIANT FEATURES ALONE: | - | 10 | 4 | 6 | - |
A797T has 80 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
797 | 0 | A797T, |
796 | 4 | V796L, V796Del, V796L, |
789 | 4 | |
798 | 4 | I798fsX, |
42 | 5 | I42N, |
788 | 5 | E788K, E788D, E788D, |
795 | 6 | V795I, |
799 | 6 | L799sp, |
860 | 7 | |
790 | 7 | |
787 | 7 | |
60 | 8 | M60T, |
43 | 8 | Y43D, Y43C, |
41 | 8 | V41A, |
61 | 9 | Q61R, |
794 | 9 | V794I, V794D, |
822 | 9 | V822M, V822L, V822L, |
31 | 9 | I31S, |
859 | 9 | T859R, T859M, |
40 | 9 | |
786 | 9 | |
800 | 10 | |
33 | 10 | N33T, |
791 | 10 | R791W, R791Q, |
15 | 10 | L15V, |
44 | 10 | C44F, C44W, C44X, |
32 | 10 | A32T, |
823 | 10 | R823Q, R823fsX, R823T, R823W, |
56 | 10 | R56Q, |
820 | 10 | G820R, G820R, |
805 | 10 | F805S, F805C, |
12 | 10 | N12D, |
821 | 11 | D821E, D821E, |
803 | 11 | D803Y, D803X, |
825 | 11 | |
824 | 11 | |
819 | 11 | N819K, N819K, |
862 | 11 | L862P, |
124 | 12 | M124R, M124T, |
59 | 12 | |
57 | 12 | A57P, |
36 | 12 | V36X, |
30 | 12 | I30Del, I30T, |
792 | 12 | |
19 | 12 | I19F, |
782 | 12 | I782fsX, I782N, |
16 | 12 | D16A, |
804 | 13 | |
861 | 13 | N861H, N861I, |
785 | 13 | G785fsX, G785S, G785D, |
793 | 13 | D793N, |
806 | 13 | G806R, G806R, |
14 | 13 | |
39 | 13 | C39R, C39X, |
770 | 13 | |
858 | 13 | I858T, I858V, |
13 | 13 | T13N, |
34 | 14 | A34T, |
62 | 14 | R62Q, |
35 | 14 | R35W, |
769 | 14 | |
45 | 14 | N45D, N45K, N45K, |
828 | 14 | |
826 | 14 | T826A, T826I, |
29 | 14 | F29S, F29L, F29L, F29V, F29L, |
801 | 14 | K801T, |
11 | 14 | Q11H, Q11L, Q11H, |
123 | 14 | |
780 | 14 | |
18 | 14 | I18M, |
818 | 14 | S818W, S818A, S818L, |
10 | 14 | |
768 | 14 | |
125 | 14 | |
63 | 14 | P63H, |
64 | 15 | C64R, C64Y, |
766 | 15 | |
55 | 15 | S55L, |
126 | 15 | |
802 | 15 |