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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q30201: Variant p.Ser65Cys

Hereditary hemochromatosis protein
Gene: HFE
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Variant information Variant position: help 65 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 Serine (S) to Cysteine (C) at position 65 (S65C, p.Ser65Cys). 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 small size and polar (S) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 HFE1; mild form. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 65 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 348 The length of the canonical sequence.
Location on the sequence: help SLFEALGYVDDQLFVFYDHE S RRVEPRTPWVSSRISSQMWL 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                         SLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWL

Chimpanzee                    SLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWL

Mouse                         PLFEARGYVDDQLFVSYNHESRRAEPRAPWILEQTSSQLWL

Rat                           PFFEALGYVDDQLFVSYNHESRRAEPRAPWILGQTSSQLWL
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 23 – 348 Hereditary hemochromatosis protein
Topological domain 23 – 306 Extracellular
Region 23 – 114 Alpha-1
Alternative sequence 26 – 114 RSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKE -> Q. In isoform 2 and isoform 4.
Alternative sequence 27 – 298 Missing. In isoform 11.
Alternative sequence 27 – 206 Missing. In isoform 6.
Beta strand 56 – 65



Literature citations
HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.
Mura C.; Raguenes O.; Ferec C.;
Blood 93:2502-2505(1999)
Cited for: VARIANTS HFE1 ASP-63; CYS-65 AND TYR-282; 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;
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.