Table 2
Polymorphisms in NBAS gene identified in patients with short stature with optic atrophy and Pelger–Huët anomaly (SOPH) syndrome
| Number of patients | Nucleotide/amino acid substitution | |||||
| Exon 45 | Exon 26 | Exon 25 | Exon 25 | Exon 16 | Exon 2 | |
| 5741G→A/R1914H | 3026G→C/C1009S | 2845G→C/V949L | 2775T→C/D925D | 1611A→G/E537E | 130C→G/E44Q | |
| 33 | A | C | C | C | G | G |
| 1 | A/G | C/G | C/G | C/T | G/A | G/C |
| Minor allele frequency in normal Yakut population (%) n=406 chromosomes | 0.49 | 3.37 | 1.43 | 1.9 | 1.9 | 2.4 |
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M1542 is located between exon 16 and exon 25.
