D1403Y Summary

SCN5A D1403Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1403Y is not present in gnomAD. D1403Y has been functionally characterized in 0 papers. Other variants at the same resdue are D1403A .D1403E .D1403E .D1403G .D1403H .D1403N .D1403V .D1403Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1403Y 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 0.955

D1403Y has 52 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
735 12.1 A735E A735T A735V
736 10.6
737 9.7
738 5.9
739 4.9
740 8.2
741 10.6
742 13.7
745 14.9
1346 15 L1346P
1349 10.8
1350 11.6
1351 13.8
1352 9.1
1353 7.2 V1353M
1354 10.9
1355 10.8
1356 8.7
1357 5 A1357V
1358 5.8
1359 8.4
1360 7.8
1361 10.5
1362 14
1395 13.4
1396 13
1397 7.8
1398 9.4 V1398M
1399 11.7
1400 9.4
1401 4.9
1402 6.1
1404 4.9
1405 8.6 V1405L V1405L V1405M
1406 8.8 G1406E G1406R G1406R
1407 6.8
1408 7.9 G1408R G1408R
1409 13.1
1410 11.7
1411 10.8
1412 12.7
1424 12.8
1427 12.7
1428 12.5 A1428S A1428V
1431 12.4
1433 12.2 G1433W
1434 10.1
1435 13.7
1438 15
1723 11.1 T1723N
1724 12.2
1725 14.7 P1725L