D1091A Summary

SCN5A D1091A was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1091A is present in 1 out of 246202 alleles in gnomAD (minor allele frequency of 0.000406%). D1091A has been functionally characterized in 0 papers. Other variants at the same resdue are D1091A .D1091E .D1091E .D1091G .D1091H .D1091N .D1091V .D1091Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1091A 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
Tolerated 0.147 -0.56 benign 0 3.677 -0.58 -3 0.27

D1091A 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
1076 14.7
1077 14.2
1078 13.7
1079 13.2 S1079F S1079T
1080 12.6
1081 12
1082 11.4 V1082A
1083 10.7
1084 10.1 G1084S
1085 9.3
1086 8.5
1087 7.6
1088 6.6 A1088T
1089 5.4
1090 3.8 P1090L
1092 3.8
1093 5.4
1094 6.6
1095 7.6 W1095C W1095C
1096 8.5
1097 9.3
1098 10.1 V1098L V1098L V1098M
1099 10.7
1100 11.4 A1100V
1101 12
1102 12.6 A1102T
1103 13.2 S1103F S1103Y
1104 13.7
1105 14.2
1106 14.7 A1106T