Sequence information
Variant position: 384 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:
RIGGFYALSPYPGLRLISLN
M NFCSRENFWLLINSTDPAGQ
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 RIGGFYALSPYPGLRLISLNM NFCSRENFWLLINSTDPAGQ
Mouse RIGGFYALTPRPGLRLISLNM NFCSRENFWLLINSTDPAGQ
Bovine RIGGFYALSPRPGLRLISLNM NFCSRENFWLLINSTDPAGQ
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
Chain
47 – 631
Sphingomyelin phosphodiesterase
Glycosylation
397 – 397
N-linked (GlcNAc...) asparagine
Alternative sequence
365 – 420
Missing. In isoform 3.
Alternative sequence
377 – 420
Missing. In isoform 2.
Mutagenesis
397 – 397
N -> G. Reduces sphingomyelin phosphodiesterase activity. No effect on secretion.
Helix
384 – 387
Literature citations
Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.
Takahashi T.; Suchi M.; Desnick R.J.; Takada G.; Schuchman E.H.;
J. Biol. Chem. 267:12552-12558(1992)
Cited for: VARIANT NPDA ILE-384; VARIANTS NPDB ARG-244 AND SER-385;
Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
Pittis M.G.; Ricci V.; Guerci V.I.; Marcais C.; Ciana G.; Dardis A.; Gerin F.; Stroppiano M.; Vanier M.T.; Filocamo M.; Bembi B.;
Hum. Mutat. 24:186-187(2004)
Cited for: VARIANTS NPDB PRO-105; PRO-227; CYS-246; THR-283; LYS-294 AND ILE-384;
Disclaimer:
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.