. 2008 Mar 24;14:583–592.

Table 1. Sequence variations in SOX2.

ID	Fragment 4	Sequence results	Fragment 5	Sequence results	Fragment 8	Sequence results	Fragment 9	Sequence results
012A	homoduplex		homoduplex		heteroduplex	*469C>A¹	homoduplex
013A	homoduplex		homoduplex		heteroduplex	*469C>A¹	homoduplex
018A	homoduplex		homoduplex		homoduplex		homoduplex
023A	homoduplex		homoduplex		homoduplex		homoduplex
023I	homoduplex		homoduplex		homoduplex		homoduplex
025A	homoduplex		homoduplex		homoduplex		homoduplex
027A	homoduplex		homoduplex		homoduplex		homoduplex
028A	homoduplex		homoduplex		homoduplex		homoduplex
029A	homoduplex		homoduplex		homoduplex		homoduplex
030A	homoduplex		homoduplex		homoduplex		homoduplex
031A	homoduplex		homoduplex		homoduplex		homoduplex
033A	homoduplex		homoduplex		homoduplex		homoduplex
034A	homoduplex		homoduplex		homoduplex		homoduplex
035A	homoduplex		homoduplex		homoduplex		homoduplex
037A	homoduplex		homoduplex		homoduplex		homoduplex
038A	homoduplex		homoduplex		homoduplex		homoduplex
040A	heteroduplex	310G>T	homoduplex		homoduplex		homoduplex
041A	homoduplex		homoduplex		homoduplex		homoduplex
042A	homoduplex		homoduplex		homoduplex		homoduplex
043A	homoduplex		homoduplex		homoduplex		homoduplex
044A	homoduplex		homoduplex		homoduplex		homoduplex
045A	homoduplex		homoduplex		homoduplex		homoduplex
046A	homoduplex		homoduplex		homoduplex		homoduplex
047A	homoduplex		homoduplex		homoduplex		homoduplex
048A	homoduplex		homoduplex		homoduplex		homoduplex
049A	homoduplex		homoduplex		homoduplex		heteroduplex	*557G>A
050A	homoduplex		homoduplex		homoduplex		homoduplex
051A	homoduplex		homoduplex		homoduplex		homoduplex
052A	homoduplex		homoduplex		homoduplex		homoduplex
053D	homoduplex		homoduplex		homoduplex		homoduplex
053A	homoduplex		homoduplex		homoduplex		homoduplex
054A	homoduplex		quadruplet	549delC	homoduplex		homoduplex
054H	homoduplex		triplet	549delC	homoduplex		homoduplex
055A	homoduplex		homoduplex		homoduplex		homoduplex

The entire genomic sequence of SOX2 was screened by CSGE. Samples which show heteroduplex, triplet, and quadruplet on CSGE are sequenced bi-directionally. Homoduplex indicates two identical alleles. Heteroduplex, triplet, and quadruplet indicate different alleles. One allele is the wild type sequence and the other one is a sequence variant differing from the wild type one. Novel mutation at c.310 G>T results in a nonsense amino acid change at p. Glu104X. The novel single nucleotide deletion at c.549delC results in a frame shift mutation and premature termination at 19 amino acids downstream of the deletion site (p.Pro184ArgfsX19). The novel single nucleotide substitution at c.*557G>A is in the 3′-UTR and does not predictably change the SOX2 protein. Another single nucleotide substitution at *469 C>A is a known SNP (rs11915160) located in the 3′-UTR. G=guanosine, T=thymidine, C=cytidine, A=adenosine, Glu=glutamic acid, Pro=proline, Arg=arginine, X=Stop, FS=frameshift; ¹SNP rs11915160