Table 3.
Types of mutation, amino acids, and number seen for previously reported mutation (NM_000320)
| Codon and nucleotide changes | c.DNA change | Amino acid change | No. seen | Genotype | References |
|---|---|---|---|---|---|
| Cd18GGC>GAC | c.[233G>A];[233G>A] | p. [(Gly18Asp)] | 4 | Homozygous | Scrutton et al. (1990) |
| Cd 23GGT>GAT | c.[248G>A];[248G>A] | p. [(Gly23Asp)] | 1 | Homozygous | Romstad et al. (2000) |
| Cd150TAC>TGC | c.[629A>G];[629A>G] | p. [(Tyr150Cys)] | 3 | Homozygous | (Dianzani et al. 1993) |
| Cd221CGA>TGA | c.[661C>T];[661C>T] | p.(R221*) | 2 | Homozygous | Smooker and Cotton (1995) |
| Cd158CAC>TAC | c.[652C>T];[652C>T] | p. [(His158Tyr)] | 1 | Homozygous | Smooker et al. (1993) |
| Cd97DelC | c.472delC | – | 1 | Homozygous | Romstad et al. (2000) |