A505V Summary

KCNH2 A505V was found in 0 papers (see below) with a total of 1 carrier: 0 had LQT2. A505V is present in 1 out of 251416 alleles in gnomAD (0.000398%). A505V 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.


A505V 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.

A505V 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 0.886 -3.773 0.984 0

A505V has 46 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
414 14 I414fsX
417 13.4
418 13.7
421 12.6 T421fsX T421M
425 14.3
456 12.5 D456Y
457 11.7 L457P
458 13.3
459 10.4
460 7.2 D460fsX
461 9.3
462 11 M462Ins
463 7 F463L
464 5.9 I464X
465 10.1
466 9.9 D466E
467 7.9
468 11.3 L468F L468R L468X
469 13.8
470 13 N470D
471 13.8 F471X
493 13.1 Y493C Y493F Y493H Y493Ins
494 14.9 F494Del
497 14.7 W497L W497X
498 9.6
499 11
500 10 I500Del
501 7.7 D501H D501N D501Y
502 5.2 M502I
503 5.8
504 3.8 A504V
506 4 I506V
507 6 P507L P507S
508 9.5
509 14.5 D509N
524 12.2
525 11.8 K525N
526 12.8
527 9
528 8.5 R528P R528W R528X
529 12.6
530 9.9
531 7.7 R531Del R531Q R531W
532 14.3
533 13.3
534 10.8 R534C