D501G Summary

SCN5A D501G was found in 3 papers (see below) with a total of 1 carrier: 1 had BrS1, 0 had LQT3, and 1 had other disease. D501G is not present in gnomAD. D501G has been functionally characterized in 0 papers. Other variants at the same resdue are D501A .D501E .D501E .D501G .D501H .D501N .D501V .D501Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D501G Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2463177520140001SIDS
2012928320100100
2975967120180100
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.

SIFT Sift Score PROVEAN Score Polyphen2 Polyphen2 Score eaRate blastPssm pamScore REVEL
Tolerated 0.058 -4.18 probablydamaging 0.992 1.271 0.12 -3 0.881

D501G has 30 neighbors within 15 ångströms that have been found in individuals.

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.

ResidueNumber Distance(Å) Variants
486 14.7
487 14.2
488 13.7
489 13.2
490 12.6
491 12
492 11.4
493 10.7 R493K
494 10.1
495 9.3
496 8.5
497 7.6
498 6.6
499 5.4
500 3.8
502 3.8
503 5.4
504 6.6 R504T
505 7.6
506 8.5 M506K
507 9.3
508 10.1
509 10.7
510 11.4
511 12
512 12.6 T512I
513 13.2 R513C
514 13.7 G514C
515 14.2
516 14.7