In Silico Data
KCNH2 Variant F29L Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-3.481 | 0.0 | -1 | 0.927 | 82 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|---|---|---|---|---|
11854117 | 2002 | 1 | 0 | 1 | |
26403377 | 2015 | 33 | 7 | 26 | |
24606995 | 2014 | 1 | 0 | 1 | |
10973849 | 2000 | 1 | 0 | 1 | |
15840476 | 2005 | 1 | 0 | 1 | |
22882672 | 2012 | 9 | 3 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 38 | 10 | 28 | - |
VARIANT FEATURES ALONE: | - | 10 | 3 | 7 | - |
Functional Data Homozygously Collected
PubMed ID | Cell Type | S.S Peak (%WT) | Peak Tail IKr (%WT) | V1/2 Act. | V1/2 Inact. | Recov. Inact. | Deactivation (%WT) |
---|---|---|---|---|---|---|---|
10187793 | Xeno | None | None | None | None | ||
21536673 | Xeno | 0 | None | None | None | None | |
23721480 | CHO | None | None | None | None | ||
26403377 | HEK293 | 25 | None | None | None | None |
Functional Data Heterozygously Collected
PubMed ID | Cell Type | S.S Peak (%WT) | Peak Tail IKr (%WT) | V1/2 Act. | V1/2 Inact. | Deactivation (%WT) |
---|---|---|---|---|---|---|
10187793 | Xeno | None | None | None | ||
21536673 | Xeno | None | None | None | ||
23721480 | CHO | None | None | None | ||
26403377 | HEK293 | 60 | 81 | None | None | None |
F29L has 64 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
29 | 0 | F29V, F29L, F29S, F29L, F29L, |
30 | 5 | I30T, I30Del, |
45 | 5 | N45D, N45K, N45K, |
27 | 6 | R27P, R27X, |
43 | 6 | Y43C, Y43D, |
128 | 6 | N128S, |
22 | 6 | F22S, F22Y, |
28 | 6 | K28E, |
31 | 7 | I31S, |
127 | 7 | |
126 | 7 | |
19 | 7 | I19F, |
48 | 7 | |
129 | 7 | F129C, |
44 | 7 | C44X, C44F, C44W, |
47 | 8 | G47V, G47C, |
18 | 9 | I18M, |
23 | 9 | |
26 | 9 | S26I, |
46 | 10 | D46Y, D46E, D46E, |
25 | 10 | Q25P, |
111 | 10 | D111V, |
21 | 10 | |
49 | 11 | C49R, C49G, |
32 | 11 | A32T, |
42 | 11 | I42N, |
113 | 11 | V113Del, |
41 | 11 | V41A, |
798 | 11 | I798fsX, |
15 | 11 | L15V, |
24 | 11 | |
56 | 11 | R56Q, |
130 | 11 | E130K, |
51 | 12 | |
112 | 12 | V112M, |
125 | 12 | |
110 | 12 | V110A, |
59 | 12 | |
124 | 12 | M124R, M124T, |
50 | 12 | E50X, |
16 | 12 | D16A, |
17 | 12 | |
64 | 13 | C64Y, C64R, |
60 | 13 | M60T, |
52 | 13 | C52W, |
20 | 13 | R20G, R20L, |
109 | 13 | L109Q, L109X, L109P, |
800 | 13 | |
114 | 13 | P114S, |
115 | 13 | V115M, |
108 | 13 | C108Y, |
66 | 14 | C66R, C66Y, C66G, |
797 | 14 | A797T, |
14 | 14 | |
40 | 14 | |
799 | 14 | L799sp, |
801 | 14 | K801T, |
55 | 14 | S55L, |
131 | 15 | V131L, V131fsX, V131L, |
786 | 15 | |
33 | 15 | N33T, |
53 | 15 | G53S, G53R, |
98 | 15 | |
69 | 15 | L69P, L69Del, |