Variant position: 295 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 GEEQRYTCQVEHPGLDQPLI VIWEPSPSGTLVIGVISGIAV
Chimpanzee GEEQRYTCQVEHPGLDQPLI VIWEPSPSGTLVIGVISGIAV
Mouse GDETRFTCQVEHPGLDQPLT ASWEPLQSQAMIIGIISGVTV
Rat GEETRFSCQVEHPGLDQPLT ATWEPSRSQDMIIGIISGITI
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
207 – 298 Ig-like C1-type
206 – 297 Alpha-3
27 – 298 Missing. In isoform 11.
162 – 348 Missing. In isoform 9.
277 – 348 Missing. In isoform 8.
293 – 296
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;
Gene symbol: HFE. Disease: haemochromatosis.
Bento M.C.; Ribeiro M.L.; Relvas L.;
Hum. Genet. 114:405-405(2004)
Cited for: VARIANT HFE1 ALA-295;
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.