I506V Summary

KCNH2 I506V was found in 0 papers (see below) with a total of 1 carrier: 0 had LQT2. I506V is present in 1 out of 251408 alleles in gnomAD (0.000398%). I506V 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.


I506V 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.

I506V 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
2 0.64 -0.877 0.121 3

I506V has 38 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
421 14.4 T421fsX T421M
425 14.5
456 13.6 D456Y
457 12.9 L457P
459 13
460 9.2 D460fsX
461 12.2
462 14.6 M462Ins
463 10.7 F463L
464 9.4 I464X
465 13.9
466 13.9 D466E
467 11.4
468 14.6 L468F L468R L468X
498 11.4
499 11.4
500 11.1 I500Del
501 10.3 D501H D501N D501Y
502 6.4 M502I
503 5.3
504 5.6 A504V
505 4 A505V
507 4.3 P507L P507S
508 6.1
509 11.8 D509N
510 11.9
521 14.2
522 13.7 G522E
523 14.1
524 9.3
525 10.3 K525N
526 11.6
527 8.3
528 8.9 R528P R528W R528X
529 13.2
530 10.8
531 10.1 R531Del R531Q R531W
534 14 R534C