In Silico Data
KCNH2 Variant R823W Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-7.105 | 1.0 | -3 | 0.934 | 72 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|---|---|---|---|---|
19695459 | 2009 | 1 | 0 | ||
23631430 | 2013 | 1 | 0 | ||
Japan Cohort | 2020 | 6 | 0 | 6 | |
Italy Cohort | 2020 | 5 | 1 | 4 | |
11854117 | 2002 | 8 | 0 | 8 | |
France Cohort | 2020 | 4 | 2 | 2 | |
10973849 | 2000 | 2 | 0 | 2 | |
26496715 | 2015 | 3 | 0 | 3 | |
27871843 | 2017 | 1 | 0 | 1 | |
LITERATURE, COHORT, AND GNOMAD: | - | 20 | 4 | 16 | - |
VARIANT FEATURES ALONE: | - | 10 | 3 | 7 | - |
Functional Data Homozygously Collected
PubMed ID | Cell Type | S.S Peak (%WT) | Peak Tail IKr (%WT) | V1/2 Act. | V1/2 Inact. | Recov. Inact. | Deactivation (%WT) |
---|---|---|---|---|---|---|---|
11278781 | CHO | 0 | None | None | None | None | |
11741928 | HEK293 | 0 | None | None | None | None | |
15961404 | HEK293 | 0 | None | None | None | None | |
16432067 | HEK293 | 5 | None | None | None | None |
Functional Data Heterozygously Collected
PubMed ID | Cell Type | S.S Peak (%WT) | Peak Tail IKr (%WT) | V1/2 Act. | V1/2 Inact. | Deactivation (%WT) |
---|---|---|---|---|---|---|
11278781 | CHO | 48 | 0.0 | None | None | |
11741928 | HEK293 | None | None | None | ||
15961404 | HEK293 | None | None | None | ||
16432067 | HEK293 | 30 | None | None | None |
R823W has 63 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
823 | 0 | R823T, R823fsX, R823Q, R823W, |
822 | 5 | V822L, V822M, V822L, |
768 | 6 | |
790 | 6 | |
824 | 6 | |
821 | 6 | D821E, D821E, |
766 | 6 | |
788 | 7 | E788D, E788D, E788K, |
767 | 7 | D767X, |
789 | 8 | |
769 | 8 | |
825 | 8 | |
787 | 8 | |
771 | 9 | H771R, H771fsX, |
770 | 9 | |
12 | 9 | N12D, |
10 | 9 | |
820 | 9 | G820R, G820R, |
793 | 9 | D793N, |
765 | 9 | |
11 | 10 | Q11L, Q11H, Q11H, |
795 | 10 | V795I, |
797 | 10 | A797T, |
792 | 10 | |
764 | 11 | |
794 | 11 | V794I, V794D, |
763 | 11 | |
786 | 11 | |
796 | 11 | V796L, V796Del, V796L, |
772 | 11 | |
723 | 11 | C723G, C723R, C723X, |
826 | 11 | T826I, T826A, |
791 | 12 | R791W, R791Q, |
696 | 12 | R696H, R696C, |
13 | 12 | T13N, |
828 | 12 | |
798 | 12 | I798fsX, |
799 | 12 | L799sp, |
7 | 12 | |
9 | 12 | A9V, A9T, |
805 | 13 | F805S, F805C, |
819 | 13 | N819K, N819K, |
8 | 13 | |
15 | 13 | L15V, |
724 | 13 | L724X, |
774 | 14 | D774Y, D774X, |
748 | 14 | |
818 | 14 | S818A, S818L, S818W, |
752 | 14 | R752P, R752Q, R752W, |
780 | 14 | |
860 | 14 | |
42 | 14 | I42N, |
785 | 14 | G785fsX, G785D, G785S, |
14 | 14 | |
830 | 14 | |
827 | 14 | |
727 | 14 | |
16 | 14 | D16A, |
800 | 14 | |
862 | 14 | L862P, |
773 | 15 | |
699 | 15 | E699D, E699D, |
782 | 15 | I782N, I782fsX, |