N507H Summary

SCN5A N507H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. N507H is not present in gnomAD. N507H has been functionally characterized in 0 papers. Other variants at the same resdue are N507D .N507H .N507I .N507K .N507K .N507S .N507T .N507Y .p.N507_L515dup . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

N507H 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
NA NA NA NA NA NA NA NA 0.405

N507H 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
492 14.7
493 14.2 R493K
494 13.7
495 13.2
496 12.6
497 12
498 11.4
499 10.7
500 10.1
501 9.3
502 8.5
503 7.6
504 6.6 R504T
505 5.4
506 3.8 M506K
508 3.8
509 5.4
510 6.6
511 7.6
512 8.5 T512I
513 9.3 R513C
514 10.1 G514C
515 10.7
516 11.4
517 12
518 12.6
519 13.2
520 13.7 M520V
521 14.2 K521E
522 14.7