Variant position: 283 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 TYQGWITLAVPPGEEQRYTC QVEHPGLDQPLIVIWEPSPSG
Chimpanzee TYQGWITLAVPPGEEQRYTC QVEHPGLDQPLIVIWEPSPSG
Mouse TYQGWLTLAVAPGDETRFTC QVEHPGLDQPLTASWEPLQSQ
Rat TYQGWLTLAVAPGEETRFSC QVEHPGLDQPLTATWEPSRSQ
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.
280 – 285
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;
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.