A437G Summary

SCN5A A437G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A437G is not present in gnomAD. A437G has been functionally characterized in 0 papers. Other variants at the same resdue are A437D .A437G .A437P .A437S .A437T .A437V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A437G 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 0.58

A437G 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
422 14.7
423 14.2
424 13.7 I424M
425 13.2
426 12.6
427 12
428 11.4 E428K
429 10.7 E429K p.E429del
430 10.1
431 9.3
432 8.5
433 7.6 R433C
434 6.6
435 5.4
436 3.8
438 3.8
439 5.4
440 6.6
441 7.6
442 8.5
443 9.3
444 10.1
445 10.7 H445D
446 11.4 E446K
447 12 A447G
448 12.6
449 13.2 T449A
450 13.7
451 14.2
452 14.7