NSD1 mutations identified in Sotos and Weaver patients
| Patient | Exon | Mutation | AA change* | Affected domain |
|---|---|---|---|---|
| *AA: amino acid; del: deletion; ins: insertion; FS: premature stop codon. | ||||
| Sotos | 5 | 1318 C /T | R438X | |
| Sotos | 5 | 2760 del (TAAG) | FS | |
| Sotos | 5 | 3196 del (C) | FS | |
| Sotos | 5 | 3062T/A | C1021X | |
| Sotos | 5 | 3090C/T | R1030X | |
| Sotos-like | 5 | 3214 C/ T | R1072X | |
| Sotos | 5 | 3355 del (C) | FS | |
| Sotos | 5 | 3705 del (TTGT) | FS | |
| Sotos-like | 6 | 3841 del C | FS | |
| Sotos | 6 | 3844 del (TTGGA) ins(GATC) | FS | |
| Sotos | 7 | 4139 del(AAGTC) ins(CTG) | FS | |
| Sotos | 10 | 4390 del(ATAT) ins(GCACTACC) | FS | |
| Sotos | 14 | 5059 T /A | I1687N | |
| Sotos | 18 | 5864 G /A | G1955R | SET |
| Sotos | 19 | 5951 G / A | R1984Q | SET |
| Sotos | 20 | 6048C/T | R2017W | |
| Weaver | 5 | 2362 del (G) | FS | |
| Weaver | 16 | 5431C/T | R1811X | |
| Weaver | 19 | 5989 A/G | Y1996C | SET |