D1551A Summary

SCN5A D1551A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1551A is not present in gnomAD. D1551A has been functionally characterized in 0 papers. Other variants at the same resdue are D1551A .D1551E .D1551E .D1551G .D1551H .D1551N .D1551V .D1551Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1551A 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	0.863

D1551A has 31 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
269	12.2
270	12.5	Q270K
272	14.6
273	7.8
274	9.1
275	11.9
276	14.3	L276Q
277	10
278	13.3
342	13.8
343	8.1
344	11.4
345	12.3
346	14.2	E346K
347	14.7
354	13.6
355	14.7	F355I
356	9.4	D356N
357	11.8
1547	12.4
1548	9.4	E1548K G1548K
1549	6.6
1550	3.9
1552	6
1553	7.3
1554	9
1555	12.1
1556	10.6
1557	9.1
1558	13.3
1560	13	L1560F L1560F