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