N470T Summary

SCN5A N470T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. N470T is not present in gnomAD. N470T has been functionally characterized in 0 papers. Other variants at the same resdue are N470D .N470H .N470I .N470K .N470K .N470S .N470T .N470Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

N470T 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 0.228

N470T 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
455 14.7
456 14.2 V456M
457 13.7
458 13.2 R458C R458H
459 12.6
460 12
461 11.4 L461V
462 10.7 E462K
463 10.1 M463R
464 9.3
465 8.5
466 7.6 L466F L466F
467 6.6
468 5.4 P468L
469 3.8
471 3.8
472 5.4
473 6.6
474 7.6 R474K
475 8.5 R475K R475S R475S
476 9.3
477 10.1
478 10.7
479 11.4
480 12 K480N K480N
481 12.6 R481Q R481W
482 13.2
483 13.7
484 14.2
485 14.7