Sequence information
Variant position: 71 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 84 The length of the canonical sequence.
Location on the sequence:
PMFQRRRRRDTHFPICIFCC
G CCHRSKCGMCCKT
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 PMFQ-RR-RRRDTHFPICIFCCG CCHRSKCGMCCKT
PTLQLRRLRRRDTHFPICIFCCG CCKTPKCGLCC
Mouse IPMQ-KR-RKRDTNFPICIFCCK CCNNSQCGICC
Rat ALLMLKR-RKRDTNFPICLFCCK CCKNSSCGLCC
Pig PVAQ--R-LRRDTHFPICIFCCG CCRKAICGMCC
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.
Literature citations
Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.
Biasiotto G.; Belloli S.; Ruggeri G.; Zanella I.; Gerardi G.; Corrado M.; Gobbi E.; Albertini A.; Arosio P.;
Clin. Chem. 49:1981-1988(2003)
Cited for: VARIANT HFE2B ASP-71;
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
Merryweather-Clarke A.T.; Cadet E.; Bomford A.; Capron D.; Viprakasit V.; Miller A.; McHugh P.J.; Chapman R.W.; Pointon J.J.; Wimhurst V.L.; Livesey K.J.; Tanphaichitr V.; Rochette J.; Robson K.J.;
Hum. Mol. Genet. 12:2241-2247(2003)
Cited for: VARIANT HFE2B ASP-71;
HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype.
Jacolot S.; Le Gac G.; Scotet V.; Quere I.; Mura C.; Ferec C.;
Blood 103:2835-2840(2004)
Cited for: VARIANTS HFE2B GLY-59 AND ASP-71;
Disclaimer:
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.