E480G Summary

KCNH2 E480G was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E480G is not present in gnomAD. E480G 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 3 individuals unaffected with LQT2 and 7 individuals affected with LQT2.


E480G 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.

E480G 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 0.722 -4.444 0.041 -2

E480G has 44 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
4 10.4
5 12.2
6 8 G6R
7 10
8 9.6
9 9.1 A9T A9V
10 11.6
13 11.8 T13N
16 13.2 D16A
17 13.8
20 13.6 R20G R20L
402 12.4 H402R
403 14.6
473 14.8 T473P
474 11.2 T474I
475 7.8 Y475C Y475Del
476 6.5 V476I
477 3.9
478 5.1 A478D
479 4.6
481 3.8
482 5.4 V482A
483 6.5 V483I
484 10
485 13.6 H485X
487 14.2 G487R G487S
488 9.8 R488C R488H
489 12.1 I489F I489I
491 13.8 V491I
492 11.3 H492Y
699 12.4 E699D
702 13.9
703 12
706 14 S706C S706F
763 14.3
764 11.9
765 9.6
766 13.5
786 14.9
824 14.1
825 12.2
826 10.3 T826A T826I
827 8.3
828 13.9