In Silico Data
KCNH2 Variant I30Del Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
None | None | None | None | 88 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|---|---|---|---|---|
24606995 | 2014 | 1 | 0 | 1 | |
LITERATURE, COHORT, AND GNOMAD: | - | 1 | 0 | 1 | - |
VARIANT FEATURES ALONE: | - | 10 | 7 | 3 | - |
I30Del has 78 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
30 | 0 | I30Del, I30T, |
127 | 5 | |
31 | 5 | I31S, |
29 | 5 | F29L, F29L, F29V, F29L, F29S, |
43 | 6 | Y43D, Y43C, |
41 | 7 | V41A, |
126 | 7 | |
44 | 7 | C44W, C44X, C44F, |
48 | 7 | |
32 | 7 | A32T, |
129 | 7 | F129C, |
45 | 8 | N45K, N45D, N45K, |
64 | 8 | C64Y, C64R, |
128 | 8 | N128S, |
42 | 8 | I42N, |
59 | 9 | |
125 | 9 | |
28 | 9 | K28E, |
66 | 9 | C66G, C66R, C66Y, |
60 | 10 | M60T, |
40 | 10 | |
112 | 10 | V112M, |
47 | 10 | G47V, G47C, |
27 | 10 | R27P, R27X, |
124 | 10 | M124T, M124R, |
798 | 10 | I798fsX, |
19 | 10 | I19F, |
110 | 11 | V110A, |
111 | 11 | D111V, |
22 | 11 | F22Y, F22S, |
49 | 11 | C49R, C49G, |
56 | 11 | R56Q, |
113 | 11 | V113Del, |
65 | 11 | T65P, |
63 | 11 | P63H, |
39 | 11 | C39R, C39X, |
33 | 11 | N33T, |
18 | 11 | I18M, |
52 | 12 | C52W, |
51 | 12 | |
69 | 12 | L69P, L69Del, |
15 | 12 | L15V, |
62 | 12 | R62Q, |
46 | 12 | D46E, D46E, D46Y, |
797 | 12 | A797T, |
114 | 12 | P114S, |
68 | 12 | F68L, F68L, F68L, F68V, |
86 | 13 | L86R, |
796 | 13 | V796L, V796L, V796Del, |
98 | 13 | |
82 | 13 | I82Del, I82dup, I82T, I82Ins, |
55 | 13 | S55L, |
61 | 13 | Q61R, |
115 | 13 | V115M, |
108 | 13 | C108Y, |
54 | 13 | Y54N, Y54X, |
130 | 13 | E130K, |
109 | 13 | L109P, L109Q, L109X, |
795 | 14 | V795I, |
34 | 14 | A34T, |
23 | 14 | |
57 | 14 | A57P, |
50 | 14 | E50X, |
53 | 14 | G53S, G53R, |
58 | 14 | E58K, E58D, E58D, |
26 | 14 | S26I, |
799 | 14 | L799sp, |
123 | 14 | |
25 | 14 | Q25P, |
67 | 14 | |
85 | 14 | A85V, A85P, |
800 | 15 | |
21 | 15 | |
94 | 15 | V94L, V94L, V94A, |
36 | 15 | V36X, |
16 | 15 | D16A, |
14 | 15 | |
38 | 15 |