Table 1.
FHH1- and ADH1-associated mutations affecting five CaSR disease-switch residues
| Wild-type | FHH1 mutation | ADH1 mutation | ||||
|---|---|---|---|---|---|---|
| Codon a | Nucleotide | Amino acid | Reference | Nucleotide | Amino acid | Reference |
| Gln27 | c.80A > C | Pro | This study | c.79C > G | Glu | This study |
| c.80A > G | Arg | (18) | ||||
| Asn178 | c.562A > T | Asp | (19) | c.562A > T | Tyr | This study |
| Ser657 | c.1970C > A | Tyr | (20) | c.1970C > G | Cys | This study |
| Ser820 | c.2458 T > G | Ala | This study | c.2459C > T | Phe | (21) |
| Thr828 | c.2483C > T | Ile | This study | c.2483C > A | Asn | This study |
a
aCodon number according to full-length 1078 amino acid CaSR protein. All variants were observed in the heterozygous state.