Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q30201: Variant p.Gln283Pro

Hereditary hemochromatosis protein
Gene: HFE
Feedback?
Variant information Variant position: help 283 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 Glutamine (Q) to Proline (P) at position 283 (Q283P, p.Gln283Pro). 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 polar (Q) to medium size and hydrophobic (P) 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; destabilizing effect on the tertiary structure of the protein; prevents the normal interaction between HFE and B2M and between HFE and TFRC; decreases the capacity of HFE to reduce transferrin-mediated iron uptake. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 283 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 TYQGWITLAVPPGEEQRYTC Q VEHPGLDQPLIVIWEPSPSG 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                         TYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSG

Chimpanzee                    TYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSG

Mouse                         TYQGWLTLAVAPGDETRFTCQVEHPGLDQPLTASWEPLQSQ

Rat                           TYQGWLTLAVAPGEETRFSCQVEHPGLDQPLTATWEPSRSQ

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
Domain 207 – 298 Ig-like C1-type
Region 206 – 297 Alpha-3
Alternative sequence 27 – 298 Missing. In isoform 11.
Alternative sequence 162 – 348 Missing. In isoform 9.
Alternative sequence 277 – 348 Missing. In isoform 8.
Beta strand 280 – 285



Literature citations
Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.
Le Gac G.; Dupradeau F.-Y.; Mura C.; Jacolot S.; Scotet V.; Esnault G.; Mercier A.-Y.; Rochette J.; Ferec C.;
Blood Cells Mol. Dis. 30:231-237(2003)
Cited for: VARIANT HFE1 PRO-283; CHARACTERIZATION OF VARIANT HFE1 PRO-283; The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.
Ka C.; Le Gac G.; Dupradeau F.-Y.; Rochette J.; Ferec C.;
Hum. Genet. 117:467-475(2005)
Cited for: CHARACTERIZATION OF VARIANT HFE1 PRO-283;
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.