Variant position: 387 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 GFYALSPYPGLRLISLNMNF CSRENFWLLINSTDPAGQLQW
Mouse GFYALTPRPGLRLISLNMNF CSRENFWLLINSTDPAGQLQW
Bovine GFYALSPRPGLRLISLNMNF CSRENFWLLINSTDPAGQLQW
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
397 – 397 N-linked (GlcNAc...) asparagine
387 – 433
365 – 420 Missing. In isoform 3.
377 – 420 Missing. In isoform 2.
397 – 397 N -> G. Reduces sphingomyelin phosphodiesterase activity. No effect on secretion.
384 – 387
Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.
Irun P.; Mallen M.; Dominguez C.; Rodriguez-Sureda V.; Alvarez-Sala L.A.; Arslan N.; Bermejo N.; Guerrero C.; Perez de Soto I.; Villalon L.; Giraldo P.; Pocovi M.;
Clin. Genet. 84:356-361(2013)
Cited for: VARIANTS NPDA ARG-228 AND ARG-387; VARIANTS NPDB CYS-230; SER-247; HIS-378; TRP-476; SER-492; PHE-599 AND ARG-610 DEL;
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.