Variant position: 359 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 SSRWLYEAMAKAWEPWLPAE ALRTLRIGGFYALSPYPGLRL
Mouse SSQWLYEAMAKAWEPWLPAD ALHTLRIGGFYALTPRPGLRL
Bovine SSHWLYEAMAEAWEPWLPAE ALRTLRIGGFYALSPRPGLRL
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
357 – 366
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;
Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency.
Acuna M.; Castro-Fernandez V.; Latorre M.; Castro J.; Schuchman E.H.; Guixe V.; Gonzalez M.; Zanlungo S.;
Biochem. Biophys. Res. Commun. 479:496-501(2016)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT NPDB ASP-359;
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.
Acuna M.; Martinez P.; Moraga C.; He X.; Moraga M.; Hunter B.; Nuernberg P.; Gutierrez R.A.; Gonzalez M.; Schuchman E.H.; Santos J.L.; Miquel J.F.; Mabe P.; Zanlungo S.;
Eur. J. Hum. Genet. 24:208-213(2016)
Cited for: FUNCTION; SUBCELLULAR LOCATION; VARIANT NPDB ASP-359; CHARACTERIZATION OF VARIANT NPDB ASP-359;
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