N347T Summary

SCN5A N347T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. N347T is not present in gnomAD. N347T has been functionally characterized in 0 papers. Other variants at the same resdue are N347D .N347H .N347I .N347K .N347K .N347S .N347T .N347Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

N347T 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 0.93

N347T has 59 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 14.6
269 14.2
272 12.6
273 12.6
274 8.9
275 10.9
276 6.9 L276Q
277 5.6
278 10.4
279 8.6
280 13.5
281 14.7 V281M
317 14.7
320 12.8 T320N
321 10.7
322 9.4
323 9.8
324 11.6
325 9.7
326 14.2
341 14.7 C341Y
342 13.4
343 10.7
344 8.6
345 6.8
346 4.7 E346K
348 3.7
349 6.9 D349N
350 8.1
351 3.8 G351S G351V
352 7.2
353 5.3 T353I
354 5.9
355 10.4 F355I
356 9 D356N
357 11.7
359 13.5
360 9.7
361 12.3
363 13
364 12.2
367 13.9 R367C R367H
376 11.8 R376H
377 11.4
380 9.6
381 12.2
383 14.1
384 12.3
872 14.5 D872N
900 13.8
903 14.9
904 10.4
905 14.7
907 13.7
908 12.9
912 14.1 Q912R
1549 14.4
1550 11.5
1551 14.7 D1551N