Table 1. CHN1 single nucleotide variants observed among DRS probands.
| # probands with variant |
Location of change a | Amino acid substitution |
dbSNP reference ID |
# controls with variant |
|---|---|---|---|---|
| 1 | 1-35G>T, 5′UTR | none | none | 0/213 |
| 1 | 261-24A>T, intron 5 | none | none | 1/187 |
| 1 | 588C>T, exon7 | E196E | none | 0/264 |
| 1 | 886+15A>G, intron 9 | none | rs12613075 | |
| 2 | 964+54A>G, intron 10 | none | none | 0/285 |
| 3 | 964+123A>T, intron 10 | none | rs56694150 | |
| 6 | 965-100G>A, intron 10 | none | rs57776382 |
a
Nucleotide numbering refers to the cDNA sequence specifying the 1,380 amino acid residues of CHN1 alpha2-chimaerin splice form, commencing at the +1 position of the initiation codon (NM _001822).