L80M Summary

SCN5A L80M was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L80M is not present in gnomAD. L80M has been functionally characterized in 0 papers. Other variants at the same resdue are L80M .L80P .L80Q .L80R .L80V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L80M 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 0.67

L80M 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
65 14.7
66 14.2
67 13.7
68 13.2
69 12.6 G69D
70 12 N70K N70K N70S
71 11.4
72 10.7
73 10.1
74 9.3 E74D E74D
75 8.5
76 7.6
77 6.6
78 5.4
79 3.8 P79A
81 3.8
82 5.4 D82E D82E
83 6.6
84 7.6 D84G D84N
85 8.5
86 9.3 F86L F86L F86L
87 10.1
88 10.7 S88G
89 11.4
90 12
91 12.6
92 13.2 T92I
93 13.7 F93S
94 14.2 I94V
95 14.7 V95I V95L V95L