L75F Summary

SCN5A L75F was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L75F is not present in gnomAD. L75F has been functionally characterized in 0 papers. Other variants at the same resdue are L75F .L75H .L75I .L75P .L75R .L75V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L75F 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 0.671

L75F 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
60 14.7 A60P
61 14.2
62 13.7
63 13.2 K63N K63N
64 12.6
65 12
66 11.4
67 10.7
68 10.1
69 9.3 G69D
70 8.5 N70K N70K N70S
71 7.6
72 6.6
73 5.4
74 3.8 E74D E74D
76 3.8
77 5.4
78 6.6
79 7.6 P79A
80 8.5
81 9.3
82 10.1 D82E D82E
83 10.7
84 11.4 D84G D84N
85 12
86 12.6 F86L F86L F86L
87 13.2
88 13.7 S88G
89 14.2
90 14.7