Variant position: 403 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 YDVCSILLGTSTLLVWVGVI RYLTFFHNYNILIATLRVALP
Mouse YDVCSILLGTSTLLVWVGVI RYLTFFHKYNILIATLRVALP
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.
The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel.
Dong X.P.; Cheng X.; Mills E.; Delling M.; Wang F.; Kurz T.; Xu H.;
Cited for: FUNCTION; MUTAGENESIS OF VAL-432; CHARACTERIZATION OF VARIANTS ML4 PRO-232; TYR-362; CYS-403 AND LEU-446;
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.
Goldin E.; Stahl S.; Cooney A.M.; Kaneski C.R.; Gupta S.; Brady R.O.; Ellis J.R.; Schiffmann R.;
Hum. Mutat. 24:460-465(2004)
Cited for: VARIANT ML4 CYS-403;
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