A467S Summary

SCN5A A467S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A467S is not present in gnomAD. A467S has been functionally characterized in 0 papers. Other variants at the same resdue are A467D .A467G .A467P .A467S .A467T .A467V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A467S 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 0.26

A467S 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
452 14.7
453 14.2 V453M
454 13.7
455 13.2
456 12.6 V456M
457 12
458 11.4 R458C R458H
459 10.7
460 10.1
461 9.3 L461V
462 8.5 E462K
463 7.6 M463R
464 6.6
465 5.4
466 3.8 L466F L466F
468 3.8 P468L
469 5.4
470 6.6 N470K N470K
471 7.6
472 8.5
473 9.3
474 10.1 R474K
475 10.7 R475K R475S R475S
476 11.4
477 12
478 12.6
479 13.2
480 13.7 K480N K480N
481 14.2 R481Q R481W
482 14.7