A251T Summary

SCN5A A251T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A251T is not present in gnomAD. A251T has been functionally characterized in 0 papers. Other variants at the same resdue are A251D .A251G .A251P .A251S .A251T .A251V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A251T 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 0.716

A251T has 43 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
242 14.9
243 14.2
244 12.5
245 11.1 Q245K
246 9.9
247 7.5 V247L V247L
248 7.6
249 7.6
250 4.8
252 3.9
253 5.4
254 5.3
255 6.4
256 9.3
257 9.4
258 10.6
259 13.7
260 14
261 14.6
404 12.7
405 15
407 11.4
408 10.6
410 13.5
411 10.2 V411M
412 13
414 13.5
415 13.9
921 14.8
924 12 V924I
925 14.1
928 13.1
929 13
1637 14.2
1639 14 G1639A
1640 10.8
1641 14.3
1642 9.5
1643 9.1
1645 13.9 T1645M
1646 11.5
1647 13.7
1775 14.6