Table 2a.
Novel SMPD1 mutations identified in the type A and B NPD patients.
| Mutationa | Exon/codon | Predicted amino acid substitution | |
|---|---|---|---|
| c.631T > C | 2/211 | p.W211R | Tryptophan → Arginine |
| c.757G > C | 2/253 | p.D253H | Aspartate → Histidine |
| c.940G > A | 2/312 | p.V314M | Valine → Methionine |
| c.1280A > G | 4/427 | p.H427R | Histidine → Arginine |
| c.1564A > G | 6/522 | p.N522S | Asparagine → Serine |
| c.1575G > C | 6/525 | p.Q525H | Glutamine → Histidine |
| c.1729A > G | 6/577 | p.G577R | Histidine → Arginine |
| c.1657del7 | 6/553 | p.fsT553 | deletion of ACCGCCT |
a
Numbered according to the first in-frame ATG in reference sequence NM_000543.3.