Variant position: 247 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 LCCRRGSGLPPASRPGAGYW GEYSKCDLPLRTLESLLSGLG
Mouse LCCRRGSGWPPNSQKGAGFW GEYSKCDLPLRTLESLLKGLG
Bovine LCCRRDSGPPPASQPGAGYW GEYSKCDLPLRTLESLLSGLG
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
229 – 252
233 – 233 S -> A. No effect on sphingomyelin phosphodiesterase activity. No effect on endolysosome location. No effect on phosphorylation by PRKCD.
250 – 250 S -> A. No effect on sphingomyelin phosphodiesterase activity. No effect on endolysosome location. No effect on phosphorylation by PRKCD.
Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick disease.
Toth B.; Erdos M.; Szekely A.; Ritli L.; Bagossi P.; Suemegi J.; Marodi L.;
JIMD Rep. 3:125-129(2012)
Cited for: VARIANTS NPDA ASP-247 AND LEU-572; CHARACTERIZATION OF VARIANTS NPDA ASP-247 AND LEU-572;
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