Variant position: 160 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 346 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 RTTFTTYQLHELERAFEKSH YPDVYSREELAGKVNLPEVRV
Mouse RTTFTTYQLHELERAFEKSH YPDVYSREELAGKVNLPEVRV
Rat RTTFTTYQLHELERAFEKSH YPDVYSREELAGKVNLPEVRV
Drosophila RTTFTTYQLHELERAFEKSH YPDVYSREELAMKVNLPEVRV
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 – 346 Retinal homeobox protein Rx
136 – 195 Homeobox
105 – 346 Missing. In isoform 2.
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Chassaing N.; Causse A.; Vigouroux A.; Delahaye A.; Alessandri J.L.; Boespflug-Tanguy O.; Boute-Benejean O.; Dollfus H.; Duban-Bedu B.; Gilbert-Dussardier B.; Giuliano F.; Gonzales M.; Holder-Espinasse M.; Isidor B.; Jacquemont M.L.; Lacombe D.; Martin-Coignard D.; Mathieu-Dramard M.; Odent S.; Picone O.; Pinson L.; Quelin C.; Sigaudy S.; Toutain A.; Thauvin-Robinet C.; Kaplan J.; Calvas P.;
Clin. Genet. 86:326-334(2014)
Cited for: VARIANTS MCOP3 HIS-160; GLN-187 AND GLN-188;
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