Variant position: 22 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 801 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 ERLWGLFQRAQQLSPRSSQT VYQRVEGPRKGHLEEEEEDGE
Mouse EQRWGLLRRVQQWSPRPSQT IYRRVEGPQLEHLEEE--DRE
Rat EQRWGLLRKVQQWSPRPSQT IYRRVEGPQLENLEEE--DRE
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 – 801 Transferrin receptor protein 2
1 – 83 Cytoplasmic
16 – 45 Disordered
1 – 171 Missing. In isoform Beta.
Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.
Biasiotto G.; Belloli S.; Ruggeri G.; Zanella I.; Gerardi G.; Corrado M.; Gobbi E.; Albertini A.; Arosio P.;
Clin. Chem. 49:1981-1988(2003)
Cited for: VARIANT HFE3 ILE-22;
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