F683Y Summary

KCNH2 F683Y was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F683Y is not present in gnomAD. F683Y 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 8 individuals unaffected with LQT2 and 2 individuals affected with LQT2.


F683Y 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.

F683Y 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 0.921 -2.917 1 3

F683Y has 55 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
675 13.7
676 11.3 Q676fsX Q676X
677 10.7 M677T
678 10.4
679 8.4 R679Q R679W
680 5.5
681 9.5 R681W
682 6.9 E682X
684 4.9
685 8.9 R685C R685H R685P
686 6.3
687 5.4
688 9.6
689 7.6
690 11.5
691 14.4
692 14.7
693 10.6 L693X
694 10.1 R694C R694H
695 14.7
696 13.8 R696C R696H
697 8.6 L697X
698 11.4 E698K E698X
700 14
701 11.9
704 14.9 A704T A704V
705 14.9 W705fsX W705X
706 14.8 S706C S706F
707 11.3
708 9.8
709 10.5
710 11.2
711 7.8 I711V
712 9.7 D712N
713 6.3 M713V
714 10.1
715 9.5 A715A A715sp A715T A715V
716 6.4 V716G
717 8.1 L717P
718 12.2
719 11.8
720 9.7
721 14 P721L
724 12.1 C723X L724X
725 11.6 Q725fsX Q725R
726 13.4
727 12.3
728 8.2
729 11.1
730 14.2
731 10.4 H731R
732 9.6
733 14.1
734 14.5 R734C R734H
760 12.8