Variant position: 465 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 580 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 IVLGPYHVKFRSLSMVSECL FSLINGDDMFVTFAAMQAQQG
Mouse IVLGPYHVKFRSLSMVSECL FSLINGDDMFVTFAAMQAQQG
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
1 – 580 Mucolipin-1
457 – 477 Pore-forming
471 – 471 D -> A. Fails to rescue defect of lactosylceramide traffic through the late endocytic pathway in ML4 patient cells.
457 – 467
Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization.
Manzoni M.; Monti E.; Bresciani R.; Bozzato A.; Barlati S.; Bassi M.T.; Borsani G.;
FEBS Lett. 567:219-224(2004)
Cited for: SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS ML4 PRO-232; PHE-408 DEL AND LEU-465;
Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic.
Pryor P.R.; Reimann F.; Gribble F.M.; Luzio J.P.;
Cited for: FUNCTION; MUTAGENESIS OF ASP-471; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT ML4 LEU-465;
The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domain.
LaPlante J.M.; Falardeau J.L.; Brown E.M.; Slaugenhaupt S.A.; Vassilev P.M.;
Exp. Cell Res. 317:691-705(2011)
Cited for: FUNCTION; MUTAGENESIS OF TYR-109; CHARACTERIZATION OF VARIANTS ML4 PRO-106 AND LEU-465;
Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.
Bargal R.; Avidan N.; Olender Z.; Ben-Asher E.; Zeigler M.; Raas-Rothschild A.; Frumkin A.; Ben-Yoseph O.; Friedlender Y.; Lancet D.; Bach G.;
Hum. Mutat. 17:397-402(2001)
Cited for: VARIANTS ML4 PRO-232; PHE-408 DEL AND LEU-465;
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