Skip to main content

Table 2a Novel SMPD1 mutations identified in the type A and B NPD patients.

From: Identification and Characterization of Eight Novel SMPD1 Mutations Causing Types A and B Niemann-Pick Disease

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

  1. aNumbered according to the first in-frame ATG in reference sequence NM_000543.3.