E481G Summary

KCNH2 E481G was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E481G is not present in gnomAD. E481G has been functionally characterized in 0 papers. This residue is located in a Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 6 individuals unaffected with LQT2 and 4 individuals affected with LQT2.


E481G Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

E481G Predictions

PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.

PAM Score REVEL Score PROVEAN Score Polyphen2 Score BLAST-PSSM
NA 0.942 -6.487 0.998 -2

E481G has 48 neighbors (found in individuals) within 15 ångströms

A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms. NOTE: some residues appear multiple times at different distances. This results from the fact that the functional Kv11.1 channel is a homotetramer and occasionally the same residue from multiple subunits is present within the 15A window. All variants shown in the rightmost column have been observed in at least one individual in the literature or gnomAD.

ResidueNumber Distance(Å) Variants
3 12.5
4 8.1
5 8.6
6 4.3 G6R
7 6.9
8 7
9 8 A9T A9V
10 10.6
11 14.9 Q11H Q11L
13 12.4 T13N
16 15 D16A
401 12.9
402 10.2 H402R
403 11.5
473 14.2 T473P
474 10.2 T474I
475 8.4 Y475C Y475Del
476 5.6 V476I
477 6.1
478 6.6 A478D
479 7.3
480 3.8 E480V
482 3.7 V482A
483 7 V483I
484 10.2
485 14.1 H485X
488 12 R488C R488H
489 13.3 I489F I489I
492 13.2 H492Y
695 12.1
696 14.2 R696C R696H
698 13.3 E698K E698X
699 9.2 E699D
700 14.2
702 11.4
703 10.6
704 14.7 A704T A704V
706 13.3 S706C S706F
763 13.6
764 10.6
765 8.3
766 11.5
767 13.3 D767X
824 13.5
825 12.4
826 11.1 T826A T826I
827 8.7
828 14.3