Y68F Summary

SCN5A Y68F was found in 1 paper (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. Y68F is not present in gnomAD. Y68F has been functionally characterized in 1 paper. Other variants at the same resdue are Y68A .Y68C .Y68D .Y68F .Y68H .Y68N .Y68S . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

Y68F Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2973450520180000
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

Y68F Reported Functional Data

Peak current and late current are relative % to wildtype. V0.5 act/inact are the voltages at which half of the maximal current is reached during an activation and inactivation protocol, each is in units of mV and relative to wildtype.

PMID Year Cell type Peak current V0.5 act V0.5 inact Rec from inact Late current
29734505 2018 HEK NA 2.9 5.2 NA

Y68F 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 0.025 -3.52 probablydamaging 0.965 0.8711 1.2 2 0.75

Y68F 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
53 14.7 R53Q
54 14.2
55 13.7
56 13.2
57 12.6
58 12
59 11.4
60 10.7 A60P
61 10.1
62 9.3
63 8.5 K63N K63N
64 7.6
65 6.6
66 5.4
67 3.8
69 3.8 G69D
70 5.4 N70K N70K N70S
71 6.6
72 7.6
73 8.5
74 9.3 E74D E74D
75 10.1
76 10.7
77 11.4
78 12
79 12.6 P79A
80 13.2
81 13.7
82 14.2 D82E D82E
83 14.7