Sequence information
Variant position: 211 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:
PSPPAPGAPVSRILFLTDLH
W DHDYLEGTDPDCADPLCCRR
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 PSPPAPGAPVSRILFLTDLHW DHDYLEGTDPDCADPLCCRR
Mouse PSPPAPGAPVSRVLFLTDLHW DHEYLEGTDPYCADPLCCRR
Bovine PKPPAPGSPVSRVLFLTDLHW DHDYLEGTDPNCENPLCCRR
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
Metal binding
208 – 208
Zinc 1
Metal binding
210 – 210
Zinc 1; via tele nitrogen
Literature citations
Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.
Desnick J.P.; Kim J.; He X.; Wasserstein M.P.; Simonaro C.M.; Schuchman E.H.;
Mol. Med. 16:316-321(2010)
Cited for: VARIANTS NPDA ARG-211 AND HIS-253; VARIANTS NPDB MET-314; ARG-427 AND HIS-525; CHARACTERIZATION OF VARIANTS NPDA ARG-211 AND HIS-253; CHARACTERIZATION OF VARIANTS NPDB MET-314; ARG-427 AND HIS-525;
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.