Exon | Nucleotide substitution | Mutation* | Amino acid charge † | β MHC functional domain |
---|---|---|---|---|
*These missense mutations are designated by the normal amino acid residue, its locus, and the mutant residue. | ||||
†Values are changes in the net charge of the substituted amino acid, based on charges of the amino acid at pH 7. | ||||
7 | GCT→ACT | Ala196Thr | 0 | Active site |
7 | CCG→CTG | Pro211Leu | 0 | Active site |
9 | CGA→CAA | Arg249Gln | −1 | Active site |
13 | CGG→CAG | Arg403Gln | −1 | Actin binding |
13 | GTG→TTG | Val404Leu | 0 | Actin binding |
13 | GTC→ATC | Val411Ile | 0 | Actin binding |
14 | CGC→TGC | Arg453Cys | −1 | Active site |
19 | GGG→AGG | Gly716Arg | +1 | Light chain binding |
22 | CGC→TGC | Arg870Cys | −1 | Head–rod junction |
23 | CTG→GTG | Leu908Val | 0 | Head–rod junction |
23 | GAG→AAG | Glu930Lys | +2 | Head–rod junction |