A478S Summary

KCNH2 A478S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A478S is not present in gnomAD. A478S has been functionally characterized in 0 papers. This residue is located in a Mild_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


A478S 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.

A478S 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 0.496 0.455 0.025 2

A478S has 41 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 14.2
4 8.6
5 13.3
6 9.7 G6R
7 12.7
8 13.4
9 13.5 A9T A9V
402 13.8 H402R
474 13.6 T474I
475 9.3 Y475C Y475Del
476 6.6 V476I
477 3.7
479 3.7
480 5.1 E480V
481 6.6
482 9.5 V482A
483 10.4 V483I
484 14.2
488 13.6 R488C R488H
489 14.4 I489F I489I
491 14.9 V491I
492 11.2 H492Y
699 12.4 E699D
700 15
702 11.5
703 9.5
704 13 A704T A704V
705 14 W705fsX W705X
706 9.8 S706C S706F
707 12.3
709 14.8
762 13.7
763 13.9
764 11.9
765 11.2
784 14.9 R784G R784Q R784W
825 14.8
826 11.7 T826A T826I
827 7.7
828 13.9
829 14.6 D829A D829E