Variant position: 163 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 631 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human DMVEVWRRSVLSPSEACGLL LGSTCGHWDIFSSWNISLPTV
Mouse DVVEVWTRSVLSPSEACGLL LGSSCGHWDIFSTWNISLPSV
Bovine DMVEVWTRSVLSPSEACGLL LGSSCGHWDIFSSWNISLPAV
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
47 – 631 Sphingomyelin phosphodiesterase
87 – 171 Saposin B-type
177 – 177 N-linked (GlcNAc...) asparagine
91 – 167
151 – 151 S -> A. No effect on sphingomyelin phosphodiesterase activity. No effect on subcellular location. No effect on phosphorylation by PRKCD.
177 – 177 N -> G. Reduces protein levels. Reduces sphingomyelin phosphodiesterase activity. No effect on secretion.
155 – 163
PAS-positive macrophages--not always infection.
Meersseman W.; Verschueren P.; Tousseyn T.; De Vos R.; Cassiman D.;
Cited for: VARIANT NPDB PRO-163;
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
Hollak C.E.; de Sonnaville E.S.; Cassiman D.; Linthorst G.E.; Groener J.E.; Morava E.; Wevers R.A.; Mannens M.; Aerts J.M.; Meersseman W.; Akkerman E.; Niezen-Koning K.E.; Mulder M.F.; Visser G.; Wijburg F.A.; Lefeber D.; Poorthuis B.J.;
Mol. Genet. Metab. 107:526-533(2012)
Cited for: VARIANTS NPDB HIS-91; PRO-105; PRO-163; CYS-230; SER-373; PRO-551 AND ARG-610 DEL; VARIANTS NPDA ARG-250; SER-465; LEU-477 AND HIS-539;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.