Variant position: 597 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:
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 KHAAVNTGQMEFTAWMPNFP ASMRNPPIQTKGLTTLETFMD
Mouse RHAAVNSGQLEYTSWMPNFP SSMRNPPMQTKGLTTLQTYMD
Rat RHAAVNTGQLEYTSWMPNFP SSMRNPPMQSKGLTTLQTFMD
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 – 701 Arachidonate 12-lipoxygenase, 12R-type
120 – 701 Lipoxygenase
578 – 578 Iron; catalytic
582 – 582 Iron; catalytic
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.
Vahlquist A.; Bygum A.; Gaanemo A.; Virtanen M.; Hellstroem-Pigg M.; Strauss G.; Brandrup F.; Fischer J.;
J. Invest. Dermatol. 130:438-443(2010)
Cited for: VARIANTS ARCI2 PHE-67; ASP-462; CYS-521; MET-527 AND GLU-597;
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.