Variant position: 53 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 LFMGASEQDLGLSLFEALGY VDDQLFVFYDHESRRVEPRTP
Chimpanzee LFMGASEQDLGLSLFEALGY VDDQLFVFYDHESRRVEPRTP
Mouse LFMGASEPDLGLPLFEARGY VDDQLFVSYNHESRRAEPRAP
Rat LFMGASKPDLGLPFFEALGY VDDQLFVSYNHESRRAEPRAP
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
26 – 114 RSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKE -> Q. In isoform 2 and isoform 4.
27 – 298 Missing. In isoform 11.
27 – 206 Missing. In isoform 6.
48 – 53
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS MET-53; ASP-63; GLN-224 AND TYR-282;
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.