T370P Summary

SCN5A T370P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T370P is not present in gnomAD. T370P has been functionally characterized in 0 papers. Other variants at the same resdue are T370A .T370K .T370M .T370P .T370R .T370S . This residue is located in a Mild_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

T370P 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 0.992

T370P 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
254 13.5
257 11.8
258 14.2
260 13.5
261 10.9
264 13.7
265 14.6
361 13.9
362 11.7
363 10.3
364 9.6
365 8.9
366 5.4
367 6.7 R367C R367H
368 6.5
369 5.1 M369K
371 4.8 Q371E
372 5.6
373 9
374 9.2
375 13.2
376 14.6 R376H
377 11.9
378 14.8
392 14.7
393 12.8
396 10.2
397 8.8 I397V
398 13.9
399 14
400 9.7 G400E G400R G400R
401 6.7
402 10.3 F402L F402L F402L
403 13.4
404 9.7
405 7.8
406 11.5 N406K N406K N406S
407 13.6
408 11.5
409 13.9 L409V
893 13 R893C R893H
894 10.9
895 12.2
896 11.5
897 7.4
898 10
899 7.1
900 9.9
901 14.2 E901K
902 14.2
903 12.5
904 14.2
916 13.8
919 12.9
920 10.1
921 13.8
922 12.2
923 7.5
924 10.6 V924I
925 14.2
926 12.6
927 9 N927S
928 8.9
929 13.8
931 13.2
932 12.8
1417 14.9
1418 13
1419 13.3
1706 14.5
1708 14.7
1709 10.6 T1709M
1710 12 S1710L
1711 12.3
1760 14.4
1764 14.2
1768 14.6 I1768V