P465R Summary

SCN5A P465R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P465R is not present in gnomAD. P465R has been functionally characterized in 0 papers. Other variants at the same resdue are P465A .P465H .P465L .P465R .P465S .P465T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

P465R 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 0.335

P465R 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
450 14.7
451 14.2
452 13.7
453 13.2 V453M
454 12.6
455 12
456 11.4 V456M
457 10.7
458 10.1 R458C R458H
459 9.3
460 8.5
461 7.6 L461V
462 6.6 E462K
463 5.4 M463R
464 3.8
466 3.8 L466F L466F
467 5.4
468 6.6 P468L
469 7.6
470 8.5 N470K N470K
471 9.3
472 10.1
473 10.7
474 11.4 R474K
475 12 R475K R475S R475S
476 12.6
477 13.2
478 13.7
479 14.2
480 14.7 K480N K480N