C1363Y Summary

SCN5A C1363Y was found in 3 papers (see below) with a total of 1 carrier: 1 had BrS1, 0 had LQT3, and 0 had other disease. C1363Y is not present in gnomAD. C1363Y has been functionally characterized in 0 papers. Other variants at the same resdue are C1363F .C1363G .C1363R .C1363S .C1363S .C1363W .C1363Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1363Y Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
1676470720060100
2127319520110100
2012928320100100
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

C1363Y 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 -10.72 probablydamaging 1 0.07458 -6.05 -4 0.957

C1363Y has 41 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
1358 14
1359 13.6
1360 12.4
1361 7.1
1362 6
1364 4.4
1365 6.3
1366 10.3
1367 11.9
1378 9.8 V1378M
1379 7.8
1380 5.5 N1380K N1380K p.N1380del
1381 6.9
1382 8.9 S1382I
1383 11
1384 11.7
1385 10
1386 5.8
1387 8.9
1388 8.5
1389 8.2
1390 10
1391 9.5 G1391R G1391R
1392 11.1
1393 8.5
1394 7.5
1395 5.3
1396 6.5
1397 11.1
1398 11.8 V1398M
1426 13.9
1427 13.1
1430 11.9 D1430N
1431 12.6
1432 13.5 R1432S R1432S
1433 13 G1433W
1435 12.6
1436 11.2
1437 6.1
1438 8
1439 10.9