K590Q Summary

SCN5A K590Q was found in 1 paper (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 1 had other disease. K590Q is present in 1 out of 248058 alleles in gnomAD (minor allele frequency of 0.000403%). K590Q has been functionally characterized in 0 papers. Other variants at the same resdue are K590E .K590I .K590N .K590N .K590Q .K590R .K590T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

K590Q Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2887840220170001AF, AVB
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

K590Q 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
Damaging 0.012 -2.68 probablydamaging 0.997 3.368 1.07 -3 0.783

K590Q has 30 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
575 14.7
576 14.2
577 13.7
578 13.2
579 12.6 G579R G579R
580 12
581 11.4 S581L
582 10.7
583 10.1
584 9.3 G584R
585 8.5
586 7.6 A586T
587 6.6
588 5.4
589 3.8
591 3.8
592 5.4 N592K N592K N592S
593 6.6
594 7.6
595 8.5
596 9.3
597 10.1
598 10.7
599 11.4 G599R G599R
600 12
601 12.6
602 13.2
603 13.7
604 14.2 L604V
605 14.7