D501G Summary

KCNH2 D501G was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D501G is not present in gnomAD. D501G 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 3 individuals unaffected with LQT2 and 7 individuals affected with LQT2.


D501G 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.

D501G 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 0.973 -6.487 0.997 -2

D501G has 50 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
410 14.2 W410X
411 13.8
414 11.7 I414fsX
415 14.6
417 13.4
418 12
421 13.2 T421fsX T421M
459 13.7
460 12.7 D460fsX
461 14.1
462 12.9 M462Ins
463 8 F463L
464 10.1 I464X
465 11.7
466 8.1 D466E
467 7
468 11.7 L468F L468R L468X
469 12
470 9 N470D
471 11.4 F471X
473 14.2 T473P
490 13.9 A490P A490T
492 13.2 H492Y
493 7.9 Y493C Y493F Y493H Y493Ins
494 11.2 F494Del
495 13 K495X
496 8.8
497 7.1 W497L W497X
498 5.5
499 6.9
500 4.6 I500Del
502 4.9 M502I
503 6.7
504 6 A504V
505 7.7 A505V
506 10.3 I506V
507 13.4 P507L P507S
526 14.4
527 10.3
528 11.8 R528P R528W R528X
529 11.6
530 7.1
531 7.6 R531Del R531Q R531W
532 10.2
533 7.2
534 5.4 R534C
535 11.3 V535M
536 11.6 A536X
537 8.3 R537W
538 11