D1471G Summary

SCN5A D1471G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1471G is not present in gnomAD. D1471G has been functionally characterized in 0 papers. Other variants at the same resdue are D1471A .D1471E .D1471E .D1471G .D1471H .D1471N .D1471V .D1471Y . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

D1471G 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 0.949

D1471G has 60 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
409 14.1 L409V
410 14.5
413 13 A413T
417 13.3
831 14.3
935 12.1
936 11.7
937 13.5
938 10.7
939 7.1
940 10.3
941 11 S941N
942 9.4
943 6.6
944 7.8
1322 14.2
1323 14.6
1325 14.4 N1325S
1326 10.7
1327 13.8
1328 14.8
1329 11.5 G1329S
1330 10.2 A1330T
1331 14.2
1332 13.3 P1332L
1333 10.3
1334 12.3 I1334V
1336 14.3
1337 13.3
1463 13.4
1464 10.8
1465 11.8
1466 8.7
1467 5.7
1468 5.5
1469 6.8
1470 4.5
1472 4.9 p.N1472del
1473 7.7 F1473C
1474 5.9
1475 7.8
1476 10.5 Q1476R
1477 10.8
1478 10.7
1479 12.5
1484 13.5
1487 12.9 M1487L M1487L
1489 13.8 E1489D E1489D
1762 13.7 I1762M
1765 12.1
1766 11.8 M1766T M1766V
1768 12 I1768V
1769 9.1
1770 12.3
1771 14.1
1772 10.6
1773 8.7
1774 13.9
1776 12.6
1777 14.5 V1777M