L771V Summary

SCN5A L771V was found in 1 paper (see below) with a total of 1 carrier: 0 had BrS1, 1 had LQT3, and 0 had other disease. L771V is not present in gnomAD. L771V has been functionally characterized in 0 papers. Other variants at the same resdue are L771F .L771H .L771I .L771P .L771R .L771V . This residue is located in a Mild_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

L771V Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2694092520160010
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

L771V 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 0.002 -1.63 probablydamaging 0.978 1.084 -2.31 -2 0.779

L771V has 32 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
710 8.5
711 6.9
712 11.1
713 10.7
714 7.5 V714A
715 9.7
716 13.1
719 13.1
720 13.2
762 13.3
763 11.6 E763K
764 9.8 M764K
765 10.3
766 9.9
767 5.9
768 6.2
769 7
770 3.8
772 5.4 D772N
773 7.2
774 10 Y774C
775 6.7
776 5.7
777 9.2
778 9.6
779 10 Q779K
780 13.2
781 14.4
782 8.7
783 12.7
785 12.8 D785N
786 13.1