Variant position: 498 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 LAVAFLAPSATTYIGLNPGY RVYQIDGNYSGSSHVVLDHET
Mouse LAVAFLAPSATTFINLNPGY RVYQIDGNYPGSSHVVLDHET
Bovine LSVAFLAPSATTYIGLNPGY RVYQIDGNYSGSSHVVLDHET
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
510 – 510 Phosphoserine; by PKC/PRKCD
505 – 505 N-linked (GlcNAc...) asparagine
505 – 505 N -> G. Loss of sphingomyelin phosphodiesterase activity. Loss of secretion.
510 – 510 S -> A. Abolishes constitutive secretion and decreases secretion in response to IL1B. No effect on lysosomal targeting. No effect on sphingomyelin phosphodiesterase activity. No effect on endolysosome location. Abolishes phosphorylation by PRKCD.
496 – 503
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.
Levran O.; Desnick R.J.; Schuchman E.H.;
Proc. Natl. Acad. Sci. U.S.A. 88:3748-3752(1991)
Cited for: VARIANT NPDA LEU-498;
The cellular trafficking and zinc dependence of secretory and lysosomal sphingomyelinase, two products of the acid sphingomyelinase gene.
Schissel S.L.; Keesler G.A.; Schuchman E.H.; Williams K.J.; Tabas I.;
J. Biol. Chem. 273:18250-18259(1998)
Cited for: CHARACTERIZATION OF VARIANT NPDA LEU-498; FUNCTION; COFACTOR;
Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.
Ricci V.; Stroppiano M.; Corsolini F.; Di Rocco M.; Parenti G.; Regis S.; Grossi S.; Biancheri R.; Mazzotti R.; Filocamo M.;
Hum. Mutat. 24:105-105(2004)
Cited for: VARIANTS NPDA PRO-105; SER-247; LYS-248; HIS-315; PRO-452; LEU-477; LEU-498; HIS-498 AND CYS-519; VARIANT GLN-296;
Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models.
Jones I.; He X.; Katouzian F.; Darroch P.I.; Schuchman E.H.;
Mol. Genet. Metab. 95:152-162(2008)
Cited for: CHARACTERIZATION OF VARIANTS NPDA PRO-304 AND LEU-498; CHARACTERIZATION OF VARIANTS NPDB TYR-423 AND ARG-610 DEL; FUNCTION; SUBCELLULAR LOCATION; CATALYTIC ACTIVITY;
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.