In Silico Data
KCNH2 Variant R56Q Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-2.544 | 0.699 | 0 | 0.877 | 76 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|---|---|---|---|---|
11854117 | 2002 | 8 | 0 | 8 | |
30533098 | 2012 | 3 | 0 | 3 | |
10973849 | 2000 | 1 | 0 | 1 | |
LITERATURE, COHORT, AND GNOMAD: | - | 11 | 0 | 11 | - |
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) |
---|---|---|---|---|---|---|---|
10187793 | Xeno | 8 | 11.2 | 35.8 | None | None | |
15475579 | HEK293 | 33 | -2.0 | 9.7 | None | 0.3 | |
21536673 | Xeno | 50 | -3.3 | 26.6 | None | 0.333333333 | |
23721480 | CHO | None | None | None | None | ||
25809256 | Xeno | 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) |
---|---|---|---|---|---|---|
10187793 | Xeno | 100 | 33 | 7.3 | 18.9 | None |
15475579 | HEK293 | 33 | -1.5 | 7.2 | 0.4 | |
21536673 | Xeno | None | None | None | ||
23721480 | CHO | None | None | None | ||
25809256 | Xeno | None | None | None |
R56Q has 62 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
56 | 0 | R56Q, |
44 | 4 | C44F, C44X, C44W, |
55 | 6 | S55L, |
859 | 6 | T859R, T859M, |
60 | 6 | M60T, |
57 | 6 | A57P, |
803 | 7 | D803X, D803Y, |
59 | 7 | |
43 | 7 | Y43C, Y43D, |
49 | 7 | C49G, C49R, |
46 | 8 | D46E, D46E, D46Y, |
45 | 8 | N45D, N45K, N45K, |
799 | 8 | L799sp, |
800 | 8 | |
857 | 9 | E857X, |
58 | 9 | E58D, E58K, E58D, |
798 | 9 | I798fsX, |
48 | 9 | |
802 | 9 | |
804 | 9 | |
860 | 10 | |
41 | 10 | V41A, |
858 | 10 | I858T, I858V, |
42 | 10 | I42N, |
797 | 10 | A797T, |
47 | 10 | G47C, G47V, |
801 | 10 | K801T, |
54 | 11 | Y54N, Y54X, |
30 | 11 | I30Del, I30T, |
53 | 11 | G53R, G53S, |
61 | 11 | Q61R, |
782 | 11 | I782N, I782fsX, |
29 | 11 | F29L, F29S, F29L, F29L, F29V, |
52 | 11 | C52W, |
31 | 11 | I31S, |
50 | 12 | E50X, |
741 | 12 | K741R, |
805 | 12 | F805C, F805S, |
62 | 12 | R62Q, |
787 | 12 | |
796 | 13 | V796Del, V796L, V796L, |
856 | 13 | |
786 | 13 | |
19 | 13 | I19F, |
789 | 13 | |
740 | 13 | C740W, C740G, |
785 | 13 | G785fsX, G785D, G785S, |
40 | 13 | |
861 | 13 | N861I, N861H, |
781 | 13 | |
51 | 14 | |
788 | 14 | E788K, E788D, E788D, |
28 | 14 | K28E, |
783 | 14 | S783P, |
806 | 14 | G806R, G806R, |
68 | 14 | F68L, F68L, F68L, F68V, |
32 | 14 | A32T, |
101 | 14 | K101E, |
855 | 15 | S855R, S855R, S855R, |
27 | 15 | R27X, R27P, |
63 | 15 | P63H, |
66 | 15 | C66R, C66G, C66Y, |