Variant position: 105 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 LQLSQSLKGWDHMFTVDFWT IMENHNHSK--------ESHTLQVILGCE
Chimpanzee LQLSQSLKGWDHMFTVDFWT IMENHNHSK--------ESHT
Mouse LHLSQSLKGWDYMFIVDFWT IMGNYNHSKVTKLGVVSESHI
Rat LQLSQSLKGWDYMFIVDFWT IMGNYNHSKVTKLRVVPESHI
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
110 – 110 N-linked (GlcNAc...) asparagine
26 – 114 RSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKE -> Q. In isoform 2 and isoform 4.
27 – 298 Missing. In isoform 11.
27 – 206 Missing. In isoform 6.
83 – 107
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;
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