Variant position: 237 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 TISLLFNAIPASLGMKLRGL LDRKGSWKKLDDMQNIFWCHK
Mouse TASLIFNALPASFGMKIRGL LDRKGSWKRLDDIRNIFWCHK
Rat TASLIFNALPASLGMKIRGL LDRKGSWKRLDDIRNIFWCHK
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
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.
Eckl K.M.; Krieg P.; Kuester W.; Traupe H.; Andre F.; Wittstruck N.; Fuerstenberger G.; Hennies H.C.;
Hum. Mutat. 26:351-361(2005)
Cited for: VARIANTS ARCI3 MET-237; VAL-281 AND LEU-630; CHARACTERIZATION OF VARIANTS ARCI3 MET-237; VAL-281 AND LEU-630;
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.
Eckl K.M.; de Juanes S.; Kurtenbach J.; Naetebus M.; Lugassy J.; Oji V.; Traupe H.; Preil M.L.; Martinez F.; Smolle J.; Harel A.; Krieg P.; Sprecher E.; Hennies H.C.;
J. Invest. Dermatol. 129:1421-1428(2009)
Cited for: VARIANTS ARCI3 MET-237; 344-GLN--ALA-347 DELINS PRO AND LEU-630; CHARACTERIZATION OF VARIANT 344-GLN--ALA-347 DELINS PRO;
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.