Sequence information
Variant position: 578 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 701 The length of the canonical sequence.
Location on the sequence:
RTVPELIRYVTIVIYTCSAK
H AAVNTGQMEFTAWMPNFPAS
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 RTVPELIRYVTIVIYTCSAKH AAVNTGQMEFTAWMPNFPAS
Mouse RTIPELIEYVTMVMYTCSARH AAVNSGQLEYTSWMPNFPSS
Rat RTVPELIEYVTMVMYTCSARH AAVNTGQLEYTSWMPNFPSS
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
Chain
1 – 701
Arachidonate 12-lipoxygenase, 12R-type
Domain
120 – 701
Lipoxygenase
Metal binding
578 – 578
Iron; catalytic
Metal binding
582 – 582
Iron; catalytic
Literature citations
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.
Jobard F.; Lefevre C.; Karaduman A.; Blanchet-Bardon C.; Emre S.; Weissenbach J.; Ozguc M.; Lathrop M.; Prud'homme J.-F.; Fischer J.;
Hum. Mol. Genet. 11:107-113(2002)
Cited for: VARIANTS ARCI2 PRO-426 AND GLN-578;
Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3.
Yu Z.; Schneider C.; Boeglin W.E.; Brash A.R.;
Biochim. Biophys. Acta 1686:238-247(2005)
Cited for: CHARACTERIZATION OF VARIANTS ARCI2 PRO-426 AND GLN-578;
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.