Variant position: 65 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 348 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 SLFEALGYVDDQLFVFYDHE SRRVEPRTPWVSSRISSQMWL
Chimpanzee SLFEALGYVDDQLFVFYDHE SRRVEPRTPWVSSRISSQMWL
Mouse PLFEARGYVDDQLFVSYNHE SRRAEPRAPWILEQTSSQLWL
Rat PFFEALGYVDDQLFVSYNHE SRRAEPRAPWILGQTSSQLWL
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
23 – 348 Hereditary hemochromatosis protein
23 – 306 Extracellular
23 – 114 Alpha-1
26 – 114 RSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKE -> Q. In isoform 2 and isoform 4.
27 – 298 Missing. In isoform 11.
27 – 206 Missing. In isoform 6.
56 – 65
HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.
Mura C.; Raguenes O.; Ferec C.;
Cited for: VARIANTS HFE1 CYS-65 AND TYR-282; VARIANT ASP-63;
Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.
Barton J.C.; Sawada-Hirai R.; Rothenberg B.E.; Acton R.T.;
Blood Cells Mol. Dis. 25:147-155(1999)
Cited for: VARIANTS HFE1 CYS-65; ARG-93 AND THR-105;
A novel missense mutation S65C in the HFE gene with a possible role in hereditary haemochromatosis.
Fagan E.; Payne S.J.;
Cited for: VARIANT HFE1 CYS-65;
Comprehensive hereditary hemochromatosis genotyping.
Jones D.C.; Young N.T.; Pigott C.; Fuggle S.V.; Barnardo M.C.N.M.; Marshall S.E.; Bunce M.;
Tissue Antigens 60:481-488(2002)
Cited for: VARIANTS HFE1 CYS-65; TYR-282 AND ALA-295;
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: VARIANTS HFE1 CYS-65; CYS-66; GLY-224 AND TYR-282;
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