Table 3.
APOPT1 Mutations
| Subject | Country of Origin |
Mutationsa |
||||
|---|---|---|---|---|---|---|
| DNA | Protein | State | Father/Mother | SNP Frequencyb | ||
| S1c | Italy | c.235C>T | p.Arg79∗ | homo | F&M hetc | Ø |
| S2c | Italy | c.235C>T | p.Arg79∗ | homo | F&M het | Ø |
| S3 | Turkey | c.163−1G>A | Ex2 skipping; p.Val55_Lys120del |
homo | NA | Ø |
| S4 | Morocco | Ex3 deletion | Ex3 deletion; p.Glu121Valfs∗6 |
homo | NA | NA |
| S5 | Oman | c.353T>C | p.Phe118Ser | homo | F&M het | Ø |
| S6 | Italy | c.235C>T | p.Arg79∗ | het | M het | Ø |
| c.370_372del | p.Glu124del | het | F het | Ø | ||
Abbreviations are as follows: F, father; M, mother; homo, homozygous; het, heterozygous; NA, not available; Ø, not reported variant.
a
Nomenclature according to HGVS; reference cDNA sequence: RefSeq NM_032374.3.
b
Frequency in dbSNP and EVS (Exome Variant Server) databases.
c
S1 and S2 are sisters.