G604V Summary

KCNH2 G604V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G604V is not present in gnomAD. G604V 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 2 individuals unaffected with LQT2 and 8 individuals affected with LQT2.

G604V 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.

G604V 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 0.945 -7.736 1 -3

G604V has 29 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
431 13.9 F431L
569 13 Y569C Y569H Y569X
572 14 G572C G572D G572R G572S
573 12.8
576 13.2
584 14.8 G584C G584R G584S
585 13.3 W585C
586 9.6 L586M
587 10.3
588 13.1 N588D N588K
589 9.5 L589P
590 7.9 G590D G590V
591 11.2 D591H D591N
592 12.9 Q592X
593 9.3 I593K I593R I593T I593V I593X
594 8.1
595 5 K595E K595N
596 6.4 P596L P596R P596S P596T
597 5.8 Y597C Y597H
603 3.5 G603D
605 3.4 P605L
606 6.6 S606Del S606F S606P
607 9.3
608 12.7
609 10.3 D609G D609N
610 8.8
612 15 V612A V612L
613 13.9 T613A T613K T613L T613M
635 14.1 N635I