H472L Summary

SCN5A H472L was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. H472L is not present in gnomAD. H472L has been functionally characterized in 0 papers. Other variants at the same resdue are H472D .H472L .H472N .H472P .H472Q .H472Q .H472R .H472Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

H472L 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 0.111

H472L 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
457 14.7
458 14.2 R458C R458H
459 13.7
460 13.2
461 12.6 L461V
462 12 E462K
463 11.4 M463R
464 10.7
465 10.1
466 9.3 L466F L466F
467 8.5
468 7.6 P468L
469 6.6
470 5.4 N470K N470K
471 3.8
473 3.8
474 5.4 R474K
475 6.6 R475K R475S R475S
476 7.6
477 8.5
478 9.3
479 10.1
480 10.7 K480N K480N
481 11.4 R481Q R481W
482 12
483 12.6
484 13.2
485 13.7
486 14.2
487 14.7