R475I Summary

SCN5A R475I was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. R475I is not present in gnomAD. R475I has been functionally characterized in 0 papers. Other variants at the same resdue are R475G .R475I .R475K .R475S .R475S .R475T . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

R475I 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 0.553

R475I 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
460 14.7
461 14.2 L461V
462 13.7 E462K
463 13.2 M463R
464 12.6
465 12
466 11.4 L466F L466F
467 10.7
468 10.1 P468L
469 9.3
470 8.5 N470K N470K
471 7.6
472 6.6
473 5.4
474 3.8 R474K
476 3.8
477 5.4
478 6.6
479 7.6
480 8.5 K480N K480N
481 9.3 R481Q R481W
482 10.1
483 10.7
484 11.4
485 12
486 12.6
487 13.2
488 13.7
489 14.2
490 14.7