V469I Summary

SCN5A V469I was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. V469I is present in 1 out of 31408 alleles in gnomAD (minor allele frequency of 0.003184%). V469I has been functionally characterized in 0 papers. Other variants at the same resdue are V469A .V469E .V469G .V469I .V469L .V469L . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

V469I 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
Tolerated 0.055 -0.86 possiblydamaging 0.568 2.21 0.12 2 0.26

V469I 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
454 14.7
455 14.2
456 13.7 V456M
457 13.2
458 12.6 R458C R458H
459 12
460 11.4
461 10.7 L461V
462 10.1 E462K
463 9.3 M463R
464 8.5
465 7.6
466 6.6 L466F L466F
467 5.4
468 3.8 P468L
470 3.8 N470K N470K
471 5.4
472 6.6
473 7.6
474 8.5 R474K
475 9.3 R475K R475S R475S
476 10.1
477 10.7
478 11.4
479 12
480 12.6 K480N K480N
481 13.2 R481Q R481W
482 13.7
483 14.2
484 14.7