In Silico Data
KCNH2 Variant R56W Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-5.087 | 0.991 | -4 | 0.77 | 76 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|---|---|---|---|---|
LITERATURE, COHORT, AND GNOMAD: | - | 0 | 0 | 0 | - |
VARIANT FEATURES ALONE: | - | 10 | 8 | 2 | - |
R56W has 62 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
19 | 13 | I19F, |
27 | 15 | R27X, R27P, |
28 | 14 | K28E, |
29 | 11 | F29L, F29L, F29L, F29V, F29S, |
30 | 11 | I30Del, I30T, |
31 | 11 | I31S, |
32 | 14 | A32T, |
40 | 13 | |
41 | 10 | V41A, |
42 | 10 | I42N, |
43 | 7 | Y43D, Y43C, |
44 | 4 | C44W, C44X, C44F, |
45 | 8 | N45K, N45K, N45D, |
46 | 8 | D46Y, D46E, D46E, |
47 | 10 | G47C, G47V, |
48 | 9 | |
49 | 7 | C49R, C49G, |
50 | 12 | E50X, |
51 | 14 | |
52 | 11 | C52W, |
53 | 11 | G53R, G53S, |
54 | 11 | Y54X, Y54N, |
55 | 6 | S55L, |
56 | 0 | R56Q, |
57 | 6 | A57P, |
58 | 9 | E58D, E58K, E58D, |
59 | 7 | |
60 | 6 | M60T, |
61 | 11 | Q61R, |
62 | 12 | R62Q, |
63 | 15 | P63H, |
66 | 15 | C66R, C66G, C66Y, |
68 | 14 | F68L, F68V, F68L, F68L, |
101 | 14 | K101E, |
740 | 13 | C740W, C740G, |
741 | 12 | K741R, |
781 | 13 | |
782 | 11 | I782N, I782fsX, |
783 | 14 | S783P, |
785 | 13 | G785fsX, G785D, G785S, |
786 | 13 | |
787 | 12 | |
788 | 14 | E788K, E788D, E788D, |
789 | 13 | |
796 | 13 | V796L, V796Del, V796L, |
797 | 10 | A797T, |
798 | 9 | I798fsX, |
799 | 8 | L799sp, |
800 | 8 | |
801 | 10 | K801T, |
802 | 9 | |
803 | 7 | D803Y, D803X, |
804 | 9 | |
805 | 12 | F805S, F805C, |
806 | 14 | G806R, G806R, |
855 | 15 | S855R, S855R, S855R, |
856 | 13 | |
857 | 9 | E857X, |
858 | 10 | I858T, I858V, |
859 | 6 | T859M, T859R, |
860 | 10 | |
861 | 13 | N861I, N861H, |