In Silico Data
KCNH2 Variant A40G Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-1.877 | 0.0 | 0 | 0.566 | 52 |
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 | 9 | 1 | - |
A40G has 56 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
15 | 14 | L15V, |
29 | 14 | F29V, F29L, F29L, F29S, F29L, |
30 | 10 | I30Del, I30T, |
31 | 8 | I31S, |
32 | 5 | A32T, |
33 | 6 | N33T, |
34 | 8 | A34T, |
35 | 9 | R35W, |
36 | 6 | V36X, |
37 | 9 | |
38 | 7 | |
39 | 4 | C39R, C39X, |
40 | 0 | |
41 | 4 | V41A, |
42 | 6 | I42N, |
43 | 11 | Y43C, Y43D, |
44 | 12 | C44F, C44X, C44W, |
48 | 14 | |
56 | 13 | R56Q, |
57 | 13 | A57P, |
58 | 14 | E58D, E58D, E58K, |
59 | 9 | |
60 | 8 | M60T, |
61 | 7 | Q61R, |
62 | 8 | R62Q, |
63 | 6 | P63H, |
64 | 7 | C64R, C64Y, |
65 | 10 | T65P, |
66 | 10 | C66R, C66Y, C66G, |
67 | 13 | |
68 | 13 | F68V, F68L, F68L, F68L, |
82 | 15 | I82Del, I82dup, I82Ins, I82T, |
83 | 14 | A83fsX, A83P, |
86 | 12 | L86R, |
87 | 15 | L87P, |
114 | 15 | P114S, |
122 | 14 | |
123 | 12 | |
124 | 10 | M124R, M124T, |
125 | 9 | |
126 | 13 | |
127 | 12 | |
788 | 13 | E788D, E788D, E788K, |
789 | 12 | |
790 | 13 | |
791 | 11 | R791W, R791Q, |
792 | 14 | |
794 | 10 | V794I, V794D, |
795 | 9 | V795I, |
796 | 7 | V796L, V796Del, V796L, |
797 | 9 | A797T, |
798 | 11 | I798fsX, |
799 | 14 | L799sp, |
819 | 14 | N819K, N819K, |
859 | 14 | T859M, T859R, |
860 | 12 |