In Silico Data
KCNH2 Variant V41F Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-2.217 | 0.367 | -1 | 0.819 | 49 |
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 | - |
V41F has 66 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
15 | 13 | L15V, |
19 | 14 | I19F, |
28 | 15 | K28E, |
29 | 11 | F29L, F29L, F29L, F29V, F29S, |
30 | 7 | I30Del, I30T, |
31 | 6 | I31S, |
32 | 6 | A32T, |
33 | 8 | N33T, |
34 | 11 | A34T, |
35 | 13 | R35W, |
36 | 10 | V36X, |
37 | 13 | |
38 | 10 | |
39 | 7 | C39R, C39X, |
40 | 4 | |
41 | 0 | V41A, |
42 | 5 | I42N, |
43 | 8 | Y43D, Y43C, |
44 | 8 | C44W, C44X, C44F, |
45 | 12 | N45K, N45K, N45D, |
46 | 15 | D46Y, D46E, D46E, |
47 | 15 | G47C, G47V, |
48 | 11 | |
49 | 13 | C49R, C49G, |
52 | 14 | C52W, |
54 | 13 | Y54X, Y54N, |
55 | 12 | S55L, |
56 | 10 | R56Q, |
57 | 10 | A57P, |
58 | 11 | E58D, E58K, E58D, |
59 | 6 | |
60 | 5 | M60T, |
61 | 7 | Q61R, |
62 | 7 | R62Q, |
63 | 7 | P63H, |
64 | 7 | C64Y, C64R, |
65 | 10 | T65P, |
66 | 9 | C66R, C66G, C66Y, |
67 | 13 | |
68 | 11 | F68L, F68V, F68L, F68L, |
69 | 13 | L69P, L69Del, |
82 | 15 | I82Del, I82T, I82Ins, I82dup, |
86 | 13 | L86R, |
112 | 14 | V112M, |
123 | 14 | |
124 | 10 | M124T, M124R, |
125 | 10 | |
126 | 11 | |
127 | 10 | |
128 | 14 | N128S, |
129 | 13 | F129C, |
788 | 13 | E788K, E788D, E788D, |
789 | 12 | |
790 | 14 | |
791 | 13 | R791W, R791Q, |
794 | 12 | V794I, V794D, |
795 | 10 | V795I, |
796 | 8 | V796L, V796Del, V796L, |
797 | 8 | A797T, |
798 | 9 | I798fsX, |
799 | 12 | L799sp, |
800 | 14 | |
803 | 15 | D803Y, D803X, |
859 | 11 | T859M, T859R, |
860 | 11 | |
861 | 15 | N861I, N861H, |