Table 2 Mutations in SETX
From: Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2
DNA | Alteration in DNA (Exon) | Alteration in Protein | Mutation Status |
|---|---|---|---|
Patient 1 | c.4816C>T (10) | p.R1606X | compound heterozygous |
c.5401_5402ins1280bp | p.V1792_L1813del, p.V1792_M1850delinsV | ||
Patient 2 | c.4816C>T (10) | p.R1606X | compound heterozygous |
c.5374+9369_5950-254del6107bp | p.V1792EfsX31, p.V1792_L2035del | ||
Patient 3 | c.4633_4636delAGTG | p.S1545AfsX26 | compound heterozygous |
c.5274+13396_6107-3547 del20729bp | p.V1759EfsX6 | ||
Patient 4 | c.5274+13396_6107-3547 del20729bp | p.V1759EfsX6 | homozygous |