T381P Summary

SCN5A T381P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T381P is not present in gnomAD. T381P has been functionally characterized in 0 papers. Other variants at the same resdue are T381A .T381I .T381N .T381P .T381S .T381S . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

T381P 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 0.984

T381P has 77 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
264 14.7
265 14.4
267 13.4
268 10.5
269 13.5
270 14.7 Q270K
271 10.1
272 6.8
273 13.1
274 10.4
275 8
276 6.1 L276Q
277 12
278 9.8
279 13.1
280 14.5
323 13.9
324 11.8
325 7.9
326 11
327 10.3
328 12.5
329 11.1
330 13.4
331 12.9
332 9.4 A332T
333 10.9
334 13.1
341 13.9 C341Y
343 14.5
347 12.2
348 10.5
349 13 D349N
351 14.7 G351S G351V
353 10.1 T353I
354 10.1
355 9 F355I
356 13.8 D356N
361 13.1
364 11.5
365 13
367 12.4 R367C R367H
368 11.4
373 13.7
374 10.5
375 11.1
376 10.1 R376H
377 6.4
378 6.3
379 7.4
380 5.5
382 4.3
383 7.6
384 5.5
385 5.8 A385T
386 6.2 G386E G386R G386R
387 10.4
388 9.9
389 7
390 10.3
391 11.9
392 9.1
393 7.7
394 13.4
395 14.3
396 12.9
397 14 I397V
1687 14.8
1689 12.8
1691 10.8
1692 10.7
1698 15 A1698T
1699 14
1702 10.9
1703 13.9
1705 13.1
1706 12.1