Variant position: 885 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 GEGILITSHGELQYYLSLLN QQLPIESQMVSKLPDMLNAEI
Mouse GEGILITSHGELQYYLSLLN QQLPIESQMVSKLPDMLNAEI
Rat GEGILITSHGELQYYLSLLN QQLPIESQMVSKLPDMLNAEI
Caenorhabditis elegans GEGILITNHSELQYYLSLMN QQLPVESQMVSRLTDMLNAEV
Drosophila GEGILITNHSELQFYLSLLN QQLPIESQFISKLPDMLNAEI
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 – 2136 U5 small nuclear ribonucleoprotein 200 kDa helicase
684 – 921 Helicase C-terminal 1
561 – 2071 Missing. In isoform 2.
A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.
Liu T.; Jin X.; Zhang X.; Yuan H.; Cheng J.; Lee J.; Zhang B.; Zhang M.; Wu J.; Wang L.; Tian G.; Wang W.;
PLoS ONE 7:E45464-E45464(2012)
Cited for: VARIANT RP33 GLU-885;
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