C1384Y Summary

SCN5A C1384Y was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1384Y is present in 1 out of 250510 alleles in gnomAD (minor allele frequency of 0.000399%). C1384Y has been functionally characterized in 0 papers. Other variants at the same resdue are C1384F .C1384G .C1384R .C1384S .C1384S .C1384W .C1384Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1384Y 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
Damaging 0 -10.47 probablydamaging 1 0.142 -2.61 -4 0.959

C1384Y has 22 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
1362 14.9
1363 11.7
1365 14.8
1379 14.7
1380 11.9 N1380K N1380K p.N1380del
1381 8.3
1382 7.2 S1382I
1383 4.7
1385 4.4
1386 6
1387 5.5
1388 9.9
1389 12
1390 8.8
1391 11.8 G1391R G1391R
1395 14.6
1432 12.7 R1432S R1432S
1436 11.3
1437 9.2
1438 12.1
1439 10.1
1442 13