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.
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
Simonaro C.M.; Desnick R.J.; McGovern M.M.; Wasserstein M.P.; Schuchman E.H.;
Am. J. Hum. Genet. 71:1413-1419(2002)
Cited for: VARIANTS NPDB VAL-51; TRP-94; PRO-139; ARG-159; PRO-198; CYS-202; MET-227; CYS-230; ASP-234; SER-247; ARG-250; HIS-291; ALA-325; ARG-332; ASP-359; HIS-378; LEU-378; PRO-381; VAL-415; TYR-423; ARG-433; PRO-434; CYS-437; VAL-454; ASP-458; TRP-476; LEU-477; LEU-482; ASN-490; SER-496; CYS-498; GLN-516; VAL-517; ARG-535; PRO-551; ASN-578; HIS-602 AND PRO-602; VARIANT VAL-487;
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;
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.
Rodriguez-Pascau L.; Gort L.; Schuchman E.H.; Vilageliu L.; Grinberg D.; Chabas A.;
Hum. Mutat. 30:1117-1122(2009)
Cited for: VARIANTS NPDA SER-247; CYS-369; PHE-392 DEL; ARG-423; SER-469; GLU-484 AND THR-594 DEL; VARIANTS NPDB CYS-230; HIS-378; TRP-476; ALA-488 AND ARG-610 DEL;
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;
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