Variant position: 127 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 ENHNHSK--------ESHTLQVILGCEM QEDNSTEGYWKYGYDGQDHLE
Chimpanzee ENHNHSK--------ESHTLQVILGCEM QEDNSTEGYWKYG
Mouse GNYNHSKVTKLGVVSESHILQVVLGCEV HEDNSTSGFWRYG
Rat GNYNHSKVTKLRVVPESHILQVILGCEV HEDNSTSGFWKYG
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
115 – 205 Alpha-2
110 – 110 N-linked (GlcNAc...) asparagine
130 – 130 N-linked (GlcNAc...) asparagine
124 – 187
27 – 298 Missing. In isoform 11.
27 – 206 Missing. In isoform 6.
114 – 219 Missing. In isoform 10.
114 – 205 Missing. In isoform 7.
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.
de Villiers J.N.P.; Hillermann R.; Loubser L.; Kotze M.J.;
Hum. Mol. Genet. 8:1517-1522(1999)
Cited for: VARIANTS HFE1 HIS-127 AND MET-330; VARIANTS MET-53; MET-59 AND ASP-63;
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.