Variant position: 393 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 PYPGLRLISLNMNFCSRENF WLLINSTDPAGQLQWLVGELQ
Mouse PRPGLRLISLNMNFCSRENF WLLINSTDPAGQLQWLVEELQ
Bovine PRPGLRLISLNMNFCSRENF WLLINSTDPAGQLQWLVGELQ
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.
392 – 395
A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate.
Sperl W.; Bart G.; Vanier M.T.; Christomanou H.; Baldissera I.; Steichensdorf E.; Paschke E.;
J. Inherit. Metab. Dis. 17:93-103(1994)
Cited for: VARIANT NPDB GLY-393;
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