A107V Summary

SCN5A A107V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A107V is not present in gnomAD. A107V has been functionally characterized in 0 papers. Other variants at the same resdue are A107D .A107G .A107P .A107S .A107T .A107V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A107V 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 0.944

A107V 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
92 14.7 T92I
93 14.2 F93S
94 13.7 I94V
95 13.2 V95I V95L V95L
96 12.6
97 12
98 11.4
99 10.7
100 10.1
101 9.3
102 8.5
103 7.6
104 6.6 R104Q R104W
105 5.4
106 3.8
108 3.8
109 5.4 N109K N109K
110 6.6 A110T
111 7.6
112 8.5
113 9.3
114 10.1
115 10.7
116 11.4
117 12
118 12.6
119 13.2 P119L P119S
120 13.7
121 14.2 R121Q R121W
122 14.7