In Silico Data
KCNH2 Variant D46E Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-2.135 | 0.001 | 1 | 0.615 | 47 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|---|---|---|---|---|
LITERATURE, COHORT, AND GNOMAD: | - | 7 | 6 | 0 | - |
VARIANT FEATURES ALONE: | - | 10 | 9 | 1 | - |
D46E has 50 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
19 | 12 | I19F, |
20 | 15 | R20G, R20L, |
22 | 13 | F22S, F22Y, |
23 | 10 | |
24 | 13 | |
25 | 14 | Q25P, |
26 | 10 | S26I, |
27 | 10 | R27P, R27X, |
28 | 10 | K28E, |
29 | 10 | F29S, F29V, F29L, F29L, F29L, |
30 | 12 | I30T, I30Del, |
31 | 14 | I31S, |
41 | 15 | V41A, |
42 | 15 | I42N, |
43 | 9 | Y43D, Y43C, |
44 | 7 | C44W, C44F, C44X, |
45 | 5 | N45D, N45K, N45K, |
46 | 0 | D46E, D46E, D46Y, |
47 | 5 | G47V, G47C, |
48 | 8 | |
49 | 6 | C49R, C49G, |
50 | 6 | E50X, |
51 | 11 | |
52 | 11 | C52W, |
53 | 10 | G53R, G53S, |
54 | 13 | Y54N, Y54X, |
55 | 10 | S55L, |
56 | 8 | R56Q, |
57 | 13 | A57P, |
58 | 14 | E58K, E58D, E58D, |
59 | 12 | |
60 | 13 | M60T, |
128 | 14 | N128S, |
129 | 13 | F129C, |
739 | 13 | H739fsX, |
740 | 14 | C740G, C740W, |
741 | 13 | K741R, |
782 | 14 | I782fsX, I782N, |
783 | 14 | S783P, |
785 | 14 | G785D, G785fsX, G785S, |
786 | 15 | |
798 | 13 | I798fsX, |
799 | 13 | L799sp, |
800 | 10 | |
801 | 9 | K801T, |
802 | 9 | |
803 | 11 | D803Y, D803X, |
804 | 14 | |
857 | 14 | E857X, |
859 | 13 | T859M, T859R, |