Variant position: 1090 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2136 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 LKLEGFALMADMVYVTQSAG RLMRAIFEIVLNRGWAQLTDK
Mouse LKLEGFALMADMVYVTQSAG RLMRAIFEIVLNRGWAQLTDK
Rat LKLEGFALMADMVYVTQSAG RLMRAIFEIVLNRGWAQLTDK
Caenorhabditis elegans LKLEGFALQADMVFVAQSAG RLFRALFEIVLWRGWAGLAQK
Drosophila LKLEGFALMSDMVFITQSAA RLMRAIFEIVLTRGWAQLADK
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.
Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.
Li N.; Mei H.; MacDonald I.M.; Jiao X.; Hejtmancik J.F.;
Invest. Ophthalmol. Vis. Sci. 51:1036-1043(2010)
Cited for: VARIANT RP33 LEU-1090;
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