Variant position: 542 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 GKHINMDGTINVDDFKIIYI APMRSLVQEMVGSFGKRLATY
Mouse GKHINMDGTINVDDFKIIYI APMRSLVQEMVGSFGKRLATY
Rat GKHINMDGTINVDDFKIIYI APMRSLVQEMVGSFGKRLATY
Caenorhabditis elegans GNHLAEDGSVKLDEFKIVYI APMKSLVQEMVGSFSKRLAPF
Drosophila GKHINEDGTINAQDFKIIYV APMKSLVQEMVGNFGRRLACY
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
490 – 673 Helicase ATP-binding 1
Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.
Bowne S.J.; Sullivan L.S.; Avery C.E.; Sasser E.M.; Roorda A.; Duncan J.L.; Wheaton D.H.; Birch D.G.; Branham K.E.; Heckenlively J.R.; Sieving P.A.; Daiger S.P.;
Mol. Vis. 19:2407-2417(2013)
Cited for: VARIANTS RP33 VAL-542; CYS-681; HIS-681; SER-682 AND LEU-1087;
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