Variant position: 168 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 WRRSVLSPSEACGLLLGSTC GHWDIFSSWNISLPTVPKPPP
Mouse WTRSVLSPSEACGLLLGSSC GHWDIFSTWNISLPSVPKPPP
Bovine WTRSVLSPSEACGLLLGSSC GHWDIFSSWNISLPAVPKPPP
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
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.
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.
Pavluu-Pereira H.; Asfaw B.; Poupctova H.; Ledvinova J.; Sikora J.; Vanier M.T.; Sandhoff K.; Zeman J.; Novotna Z.; Chudoba D.; Elleder M.;
J. Inherit. Metab. Dis. 28:203-227(2005)
Cited for: VARIANTS NPDA ARG-168; LEU-186; HIS-230; VAL-243; ARG-250; GLU-253; ALA-280; HIS-291; LYS-294; PRO-343; HIS-378; TRP-476; ARG-535 AND SER-579; VARIANT ARG-508; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANTS NPDA LEU-186; GLU-253; ALA-280; LYS-294; PRO-343 AND HIS-378;
Clinical findings in Niemann-Pick disease type B.
Muessig K.; Harzer K.; Mayrhofer H.; Kraegeloh-Mann I.; Haering H.-U.; Machicao F.;
Intern. Med. J. 36:135-136(2006)
Cited for: VARIANTS NPDB ARG-168 AND ASN-178; VARIANT GLY-507;
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