Y378C Summary

SCN5A Y378C was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. Y378C is not present in gnomAD. Y378C has been functionally characterized in 0 papers. Other variants at the same resdue are Y378C .Y378D .Y378F .Y378H .Y378N .Y378S . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

Y378C 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 0.926

Y378C has 76 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
268 14.1
271 14.3
272 11.9
275 14.2
276 12 L276Q
324 14.4
325 12.3
326 15
327 14.9
329 14.5
331 13.3
332 11.8 A332T
333 12.8
348 14.3
353 13.5 T353I
354 14.7
355 13.1 F355I
364 12.8
365 13.5
367 11.7 R367C R367H
368 9.8
370 14.8 T370M
371 11.7 Q371E
372 12.9
373 11
374 6
375 7.1
376 9.5 R376H
377 6.8
379 5.3
380 8.2
381 6.3
382 5.3
383 9.9
384 11
385 10.5 A385T
386 8.6 G386E G386R G386R
387 9.8
388 10.7
389 9.5
390 7.6
391 10.7
392 9.5
393 5.6
394 9.9
395 12.9
396 11.4
397 10.4 I397V
398 14.4
401 14.9
1668 13.5
1687 11.7
1688 13.2
1689 11.7
1691 9.8
1692 7.6
1693 13
1694 14.5
1698 11.7 A1698T
1699 10.7
1700 11.9
1701 10.9 M1701I M1701I M1701I
1702 6.4
1703 8.4
1704 10.7
1705 7.3
1706 6
1707 11
1708 11.6
1709 10.7 T1709M
1710 13.1 S1710L
1711 9.7
1712 11.1 G1712S
1713 14.2
1715 14.1
1716 12.6