Skip to main content

View full-text article in PMC

. 2009 Sep 11;10:87. doi: 10.1186/1471-2350-10-87

Table 2.

Mutations in SETX

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