F701I Summary

KCNH2 F701I was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F701I is not present in gnomAD. F701I 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.


F701I 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.

F701I 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 0.904 -5.733 0.866 0

F701I has 57 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 10.2
5 12.8
6 13.3 G6R
540 14.4 D540fsX
544 14 E544A E544fsX
669 12 G669C G669R G669X
670 12.6
671 13.1 A671Del A671G
672 10.9 R672C R672H
673 7
674 10.6 H674fsX H674Y
675 10.8
676 6.9 Q676fsX Q676X
677 6.2 M677T
678 11
679 10.3 R679Q R679W
680 7.4
681 10.2 R681W
682 13.6 E682X
683 11.9
684 12.3
689 14.7
693 13.2 L693X
694 12 R694C R694H
695 12.7
696 12.1 R696C R696H
697 7.4 L697X
698 7.4 E698K E698X
699 8.5 E699D
700 6.3
702 5
703 8.2
704 6 A704T A704V
705 6.6 W705fsX W705X
706 8.6 S706C S706F
707 11.7
708 9.9
709 11.3
710 9.6
711 12.3 I711V
712 13.2 D712N
713 14.9 M713V
715 13 A715A A715sp A715T A715V
716 10.2 V716G
717 12.4 L717P
718 13.6
719 8.8
720 8.2
721 11.7 P721L
724 11.9 C723X L724X
725 14.1 Q725fsX Q725R
728 14.4
762 13.9
763 14.7
764 13
767 14.5 D767X