Table 6.
Patient ID | Mutationa | Amino acid change | Affected codon | Effect |
---|---|---|---|---|
A1 | GAC > GGC | Asp > Gly | 32 | MS |
A5 | AAA > TAA | Lys > Stop | 49 | NS |
A9 | AAA > TTA | Lys > Leu | 49 | MS |
A10 | GAC > GGC | Asp > Gly | 32 | MS |
A62 | AAA > TAA | Lys > Stop | 49 | NS |
A74 | GAC > GGC | Asp > Gly | 32 | MS |
A82 | TCT > TTT | Ser > Phe | 45 | MS |
aMutated, deleted or inserted nucleotide underlined.
Abbreviations: MS, missense mutation; NS, nonsense mutation.