Variant position: 396 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 711 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 SPIFLPTDSEWDWLLAKTWV RNSEFLVHENNTHFLCTHLLC
Mouse SPIFLPTDCELDWLLAKTWV RNSEFLVHENNTHFLCTHLLC
Rat SPIFLPTDCELDWLLAKTWV RNSEFLVHENNTHFLCTHLLC
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
1 – 711 Hydroperoxide isomerase ALOXE3
120 – 711 Lipoxygenase
408 – 408 Iron; catalytic
413 – 413 Iron; catalytic
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 ARCI3 SER-396 AND PHE-500;
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 ARCI3 SER-396 AND PHE-500;
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.