D252Y Summary

SCN5A D252Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D252Y is not present in gnomAD. D252Y has been functionally characterized in 0 papers. Other variants at the same resdue are D252A .D252E .D252E .D252G .D252H .D252N .D252V .D252Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

D252Y 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	0.958

D252Y has 42 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
245	12.8	Q245K
246	12.1
247	10.7	V247L V247L
248	10.1
249	8.3
250	6.9
251	3.9
253	5.1
254	7.1
255	5.7
256	7.6
257	9.7
258	10.9
259	12.3
260	13.1
261	15
404	12.5
407	10.8
408	11.6
410	13.3
411	10.5	V411M
412	14.3
414	13.2
415	14.7
1633	14.1
1634	13.6
1636	14.7
1637	10.5
1638	15	R1638Q
1639	10.4	G1639A
1640	7.1
1641	10.7
1642	6
1643	5.5
1644	11.6	R1644C R1644H
1645	10.6	T1645M
1646	8.8
1647	10.6
1649	14.5
1650	14
1775	12.9
1779	14	T1779M