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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9GZU1: Variant p.Asp362Tyr

Mucolipin-1
Gene: MCOLN1
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Variant information Variant position: help 362 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Aspartate (D) to Tyrosine (Y) at position 362 (D362Y, p.Asp362Tyr). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and acidic (D) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In ML4; affects channel activity; abolishes Fe(2+) permeability. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 362 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 580 The length of the canonical sequence.
Location on the sequence: help ISLWERLEFVNGWYILLVTS D VLTISGTIMKIGIEAKNLAS 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         ISLWERLEFVNGWYILLVTSDVLTISGTIMKIGIEAKNLAS

Mouse                         ISLWERLEFVNGWYILLVTSDVLTISGTVMKIGIEAKNLAS
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 580 Mucolipin-1
Transmembrane 351 – 371 Helical; Name=3
Helix 353 – 377



Literature citations
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.
Sun M.; Goldin E.; Stahl S.; Falardeau J.L.; Kennedy J.C.; Acierno J.S. Jr.; Bove C.; Kaneski C.R.; Nagle J.; Bromley M.C.; Colman M.; Schiffmann R.; Slaugenhaupt S.A.;
Hum. Mol. Genet. 9:2471-2478(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; TISSUE SPECIFICITY; VARIANTS ML4 172-ARG--ASN-580 DEL; TYR-362; PHE-408 DEL AND LEU-446; Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.
Raychowdhury M.K.; Gonzalez-Perrett S.; Montalbetti N.; Timpanaro G.A.; Chasan B.; Goldmann W.H.; Stahl S.; Cooney A.; Goldin E.; Cantiello H.F.;
Hum. Mol. Genet. 13:617-627(2004)
Cited for: FUNCTIONAL CHARACTERIZATION; SUBUNIT; CHARACTERIZATION OF VARIANTS ML4 TYR-362; PHE-408 DEL AND LEU-446; 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.;
Nature 455:992-996(2008)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS ML4 PRO-232; TYR-362; CYS-403 AND LEU-446; TRANSPORTER ACTIVITY; The neurogenetics of mucolipidosis type IV.
Altarescu G.; Sun M.; Moore D.F.; Smith J.A.; Wiggs E.A.; Solomon B.I.; Patronas N.J.; Frei K.P.; Gupta S.; Kaneski C.R.; Quarrell O.W.; Slaugenhaupt S.A.; Goldin E.; Schiffmann R.;
Neurology 59:306-313(2002)
Cited for: VARIANTS ML4 PRO-106; TYR-362; PHE-408 DEL AND PRO-447;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.