A505V Summary

SCN5A A505V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A505V is not present in gnomAD. A505V has been functionally characterized in 0 papers. Other variants at the same resdue are A505E .A505G .A505P .A505S .A505T .A505V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

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.

SIFT Sift Score PROVEAN Score Polyphen2 Polyphen2 Score eaRate blastPssm pamScore REVEL
NA NA NA NA NA NA NA NA 0.458

A505V 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
490 14.7
491 14.2
492 13.7
493 13.2 R493K
494 12.6
495 12
496 11.4
497 10.7
498 10.1
499 9.3
500 8.5
501 7.6
502 6.6
503 5.4
504 3.8 R504T
506 3.8 M506K
507 5.4
508 6.6
509 7.6
510 8.5
511 9.3
512 10.1 T512I
513 10.7 R513C
514 11.4 G514C
515 12
516 12.6
517 13.2
518 13.7
519 14.2
520 14.7 M520V